{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:11:48Z","timestamp":1791328308513,"version":"4.3.1"},"reference-count":189,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,4,26]],"date-time":"2021-04-26T00:00:00Z","timestamp":1619395200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Platelets play a major role in hemostasis as ppwell as in many other physiological and pathological processes. Accordingly, production of about 1011 platelet per day as well as appropriate survival and functions are life essential events. Inherited platelet disorders (IPDs), affecting either platelet count or platelet functions, comprise a heterogenous group of about sixty rare diseases caused by molecular anomalies in many culprit genes. Their clinical relevance is highly variable according to the specific disease and even within the same type, ranging from almost negligible to life-threatening. Mucocutaneous bleeding diathesis (epistaxis, gum bleeding, purpura, menorrhagia), but also multisystemic disorders and\/or malignancy comprise the clinical spectrum of IPDs. The early and accurate diagnosis of IPDs and a close patient medical follow-up is of great importance. A genotype\u2013phenotype relationship in many IPDs makes a molecular diagnosis especially relevant to proper clinical management. Genetic diagnosis of IPDs has been greatly facilitated by the introduction of high throughput sequencing (HTS) techniques into mainstream investigation practice in these diseases. However, there are still unsolved ethical concerns on general genetic investigations. Patients should be informed and comprehend the potential implications of their genetic analysis. Unlike the progress in diagnosis, there have been no major advances in the clinical management of IPDs. Educational and preventive measures, few hemostatic drugs, platelet transfusions, thrombopoietin receptor agonists, and in life-threatening IPDs, allogeneic hematopoietic stem cell transplantation are therapeutic possibilities. Gene therapy may be a future option. Regular follow-up by a specialized hematology service with multidisciplinary support especially for syndromic IPDs is mandatory.<\/jats:p>","DOI":"10.3390\/ijms22094521","type":"journal-article","created":{"date-parts":[[2021,4,27]],"date-time":"2021-04-27T02:31:43Z","timestamp":1619490703000},"page":"4521","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":113,"title":["Inherited Platelet Disorders: An Updated Overview"],"prefix":"10.3390","volume":"22","author":[{"given":"Ver\u00f3nica","family":"Palma-Barqueros","sequence":"first","affiliation":[{"name":"Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, 30008 Murcia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuria","family":"Revilla","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Universitario Ram\u00f3n y Cajal, 28034 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, 30008 Murcia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Zamora C\u00e1novas","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, 30008 Murcia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3583-2977","authenticated-orcid":false,"given":"Agust\u00edn","family":"Rodriguez-Al\u00e9n","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Virgen de la Salud, Complejo Hospitalario de Toledo, 45071 Toledo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Mar\u00edn-Qu\u00edlez","sequence":"additional","affiliation":[{"name":"Department of Hematology, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca (IBSAL), Universidad de Salamanca (USAL), 37007 Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Ram\u00f3n","family":"Gonz\u00e1lez-Porras","sequence":"additional","affiliation":[{"name":"Department of Hematology, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca (IBSAL), Universidad de Salamanca (USAL), 37007 Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4278-3264","authenticated-orcid":false,"given":"Vicente","family":"Vicente","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, 30008 Murcia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3148-7037","authenticated-orcid":false,"given":"Mar\u00eda Luisa","family":"Lozano","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, 30008 Murcia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8007-3909","authenticated-orcid":false,"given":"Jos\u00e9 Mar\u00eda","family":"Bastida","sequence":"additional","affiliation":[{"name":"Department of Hematology, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca (IBSAL), Universidad de Salamanca (USAL), 37007 Salamanca, Spain"},{"name":"Grupo Espa\u00f1ol de Alteraciones Plaquetarias Cong\u00e9nitas (GEAPC), Sociedad Espa\u00f1ola de Trombosis y Hemostasia (SETH), 28006 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4225-6840","authenticated-orcid":false,"given":"Jos\u00e9","family":"Rivera","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda y Oncolog\u00eda M\u00e9dica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Arrixaca, CIBERER-U765, 30008 Murcia, Spain"},{"name":"Grupo Espa\u00f1ol de Alteraciones Plaquetarias Cong\u00e9nitas (GEAPC), Sociedad Espa\u00f1ola de Trombosis y Hemostasia (SETH), 28006 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,4,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1111\/j.1365-2141.2006.06343.x","article-title":"A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO","volume":"135","author":"Chalmers","year":"2006","journal-title":"Br. J. Haematol."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Bastida, J.M., Benito, R., Lozano, M.L., Marin-Quilez, A., Janusz, K., Martin-Izquierdo, M., Hernandez-Sanchez, J., Palma-Barqueros, V., Hernandez-Rivas, J.M., and Rivera, J. (2019). Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders. Semin. Thromb. Hemost.","DOI":"10.1055\/s-0039-1687889"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1111\/jth.15113","article-title":"Population based frequency of naturally occurring loss-of-function variants in genes associated with platelet disorders","volume":"19","author":"Oved","year":"2021","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1182\/asheducation-2017.1.385","article-title":"Hereditary thrombocytopenias: A growing list of disorders","volume":"2017","author":"Noris","year":"2017","journal-title":"Hematol. Am. Soc. Hematol. Educ. Program"},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Pecci, A., and Balduini, C.L. (2020). Inherited thrombocytopenias: An updated guide for clinicians. Blood Rev., 100784.","DOI":"10.1016\/j.blre.2020.100784"},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Bury, L., Falcinelli, E., and Gresele, P. (2021). Learning the Ropes of Platelet Count Regulation: Inherited Thrombocytopenias. J. Clin. Med., 10.","DOI":"10.3390\/jcm10030533"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.tmrv.2020.09.006","article-title":"Inherited Platelet Disorders: Diagnosis and Management","volume":"34","author":"Kahr","year":"2020","journal-title":"Transfus. Med. Rev."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"337","DOI":"10.3324\/haematol.2020.248153","article-title":"Inherited platelet diseases with normal platelet count: Phenotypes, genotypes and diagnostic strategy","volume":"106","author":"Nurden","year":"2021","journal-title":"Haematologica"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1055\/s-0031-1291377","article-title":"Congenital amegakaryocytic thrombocytopenia: Clinical presentation, diagnosis, and treatment","volume":"37","author":"Ballmaier","year":"2011","journal-title":"Semin. Thromb. Hemost."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Germeshausen, M., and Ballmaier, M. (2020). CAMT-MPL: Congenital Amegakaryocytic Thrombocytopenia caused by MPL mutations - Heterogeneity of a monogenic disorder\u2014Comprehensive analysis of 56 patients. Haematologica.","DOI":"10.3324\/haematol.2020.257972"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1111\/bjh.14694","article-title":"A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene","volume":"181","author":"Noris","year":"2018","journal-title":"Br. J. Haematol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1182\/bloodadvances.2019001293","article-title":"Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia","volume":"4","author":"Cornish","year":"2020","journal-title":"Blood Adv."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"63","DOI":"10.15252\/emmm.201708168","article-title":"Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim","volume":"10","author":"Pecci","year":"2018","journal-title":"EMBO Mol. Med."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1046\/j.1365-2141.2001.02834.x","article-title":"Congenital thrombocytopenia and radio-ulnar synostosis: A new familial syndrome","volume":"113","author":"Thompson","year":"2001","journal-title":"Br. J. Haematol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1182\/bloodadvances.2018016501","article-title":"MECOM-associated syndrome: A heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia","volume":"2","author":"Germeshausen","year":"2018","journal-title":"Blood Adv."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1016\/j.ajhg.2015.10.010","article-title":"Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia","volume":"97","author":"Niihori","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/ng.1083","article-title":"Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome","volume":"44","author":"Albers","year":"2021","journal-title":"Nat. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1111\/ijlh.12999","article-title":"Inherited thrombocytopenia and platelet disorders with germline predisposition to myeloid neoplasia","volume":"41","author":"Galera","year":"2019","journal-title":"Int. J. Lab. Hematol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1053\/j.seminhematol.2017.04.006","article-title":"RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM)","volume":"54","author":"Schlegelberger","year":"2017","journal-title":"Semin. Hematol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1080\/09537104.2016.1267337","article-title":"Spectrum of 5\u2019UTR mutations in ANKRD26 gene in patients with inherited thrombocytopenia: C.-140C>G mutation is more frequent than expected","volume":"28","author":"Ferrari","year":"2017","journal-title":"Platelets"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"6673","DOI":"10.1182\/blood-2011-02-336537","article-title":"Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: Analysis of 78 patients from 21 families","volume":"117","author":"Noris","year":"2011","journal-title":"Blood"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1182\/blood.2019852418","article-title":"ETV6-related thrombocytopenia and leukemia predisposition","volume":"134","author":"Porter","year":"2019","journal-title":"Blood"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1038\/ng.3253","article-title":"Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia","volume":"47","author":"Noetzli","year":"2015","journal-title":"Nat. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"2070","DOI":"10.1182\/blood.2019000782","article-title":"Germline mutations in the transcription factor IKZF5 cause thrombocytopenia","volume":"134","author":"Lentaigne","year":"2019","journal-title":"Blood"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1038\/ng.103","article-title":"A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia","volume":"40","author":"Morison","year":"2008","journal-title":"Nat. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"2004","DOI":"10.3324\/haematol.2019.233197","article-title":"Inherited thrombocytopenias: History, advances and perspectives","volume":"105","author":"Nurden","year":"2020","journal-title":"Haematologica"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.3324\/haematol.2018.204784","article-title":"Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia","volume":"104","author":"Bariana","year":"2019","journal-title":"Haematologica"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"2344","DOI":"10.1016\/j.jid.2017.06.028","article-title":"Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia","volume":"137","author":"Takeichi","year":"2017","journal-title":"J. Investig. Dermatol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1111\/nyas.12938","article-title":"Diseases caused by mutations in ORAI1 and STIM1","volume":"1356","author":"Lacruz","year":"2015","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/j.ymgme.2014.12.307","article-title":"York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1","volume":"114","author":"Markello","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1002\/humu.22607","article-title":"Spectrum of the mutations in Bernard-Soulier syndrome","volume":"35","author":"Savoia","year":"2014","journal-title":"Hum. Mutat."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"355","DOI":"10.3324\/haematol.2010.039883","article-title":"Bernard-Soulier syndrome","volume":"96","author":"Berndt","year":"2011","journal-title":"Haematologica"},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Ferrari, S., Lombardi, A.M., Cortella, I., Businaro, M.A., Bertomoro, A., Di Pasquale, I., and Fabris, F. (2018). New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia. Br. J. Haematol.","DOI":"10.1111\/bjh.15176"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"82","DOI":"10.3324\/haematol.2011.050682","article-title":"Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbalpha (Bolzano mutation)","volume":"97","author":"Noris","year":"2012","journal-title":"Haematologica"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1182\/blood-2016-08-732248","article-title":"Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia","volume":"129","author":"Sivapalaratnam","year":"2017","journal-title":"Blood"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1111\/jth.14827","article-title":"Guidance on the diagnosis and management of platelet-type von Willebrand disease: A communication from the Platelet Physiology Subcommittee of the ISTH","volume":"18","author":"Othman","year":"2020","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/ajh.24958","article-title":"Mutations of the integrin alphaIIb\/beta3 intracytoplasmic salt bridge cause macrothrombocytopenia and enlarged platelet alpha-granules","volume":"93","author":"Favier","year":"2018","journal-title":"Am. J. Hematol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"5479","DOI":"10.1182\/blood-2010-12-323691","article-title":"Heterozygous ITGA2B R995W mutation inducing constitutive activation of the alphaIIbbeta3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia","volume":"117","author":"Kunishima","year":"2011","journal-title":"Blood"},{"key":"ref_39","doi-asserted-by":"crossref","unstructured":"Morais, S., Oliveira, J., Lau, C., Pereira, M., Goncalves, M., Monteiro, C., Goncalves, A.R., Matos, R., Sampaio, M., and Cruz, E. (2020). alphaIIbbeta3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0235136"},{"key":"ref_40","doi-asserted-by":"crossref","unstructured":"Lambert, M.P., Arulselvan, A., Schott, A., Markham, S.J., Crowley, T.B., Zackai, E.H., and McDonald-McGinn, D.M. (2017). The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias. Am. J. Med Genet. Part. A.","DOI":"10.1002\/ajmg.a.38474"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1002\/ajmg.c.31448","article-title":"Jacobsen syndrome: Advances in our knowledge of phenotype and genotype","volume":"169","author":"Favier","year":"2015","journal-title":"Am. J. Med. Genet. Part. C Semin. Med. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/1750-1172-4-9","article-title":"Jacobsen syndrome","volume":"4","author":"Mattina","year":"2009","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.3324\/haematol.2016.153577","article-title":"Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: Ultrastructural and pathogenic features","volume":"102","author":"Saultier","year":"2017","journal-title":"Haematologica"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"2027","DOI":"10.1182\/blood-2015-06-650887","article-title":"Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1","volume":"126","author":"Stevenson","year":"2015","journal-title":"Blood"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1055\/s-0031-1291378","article-title":"Inherited thrombocytopenia due to GATA-1 mutations","volume":"37","author":"Millikan","year":"2011","journal-title":"Semin. Thromb. Hemost."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"2103","DOI":"10.1182\/blood-2016-09-687889","article-title":"GATA factor mutations in hematologic disease","volume":"129","author":"Crispino","year":"2017","journal-title":"Blood"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1182\/blood-2016-11-749366","article-title":"Platelet CD34 expression and alpha\/delta-granule abnormalities in GFI1B- and RUNX1-related familial bleeding disorders","volume":"129","author":"Marneth","year":"2017","journal-title":"Blood"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1080\/09537104.2017.1317734","article-title":"GFI1B variants associated with thrombocytopenia","volume":"28","author":"Rabbolini","year":"2017","journal-title":"Platelets"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/j.ymgme.2016.12.006","article-title":"Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B","volume":"120","author":"Ferreira","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1111\/bjh.14471","article-title":"Dawning of the age of genomics for platelet granule disorders: Improving insight, diagnosis and management","volume":"176","author":"Bariana","year":"2017","journal-title":"Br. J. Haematol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1956","DOI":"10.1182\/blood.2019004776","article-title":"Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome","volume":"136","author":"Sims","year":"2020","journal-title":"Blood"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1080\/09537104.2018.1478405","article-title":"NBEAL2 mutations and bleeding in patients with gray platelet syndrome","volume":"29","author":"Pluthero","year":"2018","journal-title":"Platelets"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1111\/jth.15177","article-title":"Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryocyte and platelet function defects","volume":"19","author":"Pluthero","year":"2021","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_54","doi-asserted-by":"crossref","unstructured":"Hofmann, I., Geer, M.J., Vogtle, T., Crispin, A., Campagna, D.R., Barr, A., Calicchio, M.L., Heising, S., van Geffen, J.P., and Kuijpers, M.J.E. (2018). Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice. Blood.","DOI":"10.1182\/blood-2017-08-802769"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1002\/humu.22476","article-title":"MYH9-related disease: A novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations","volume":"35","author":"Pecci","year":"2014","journal-title":"Hum. Mutat."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1080\/09537104.2017.1294250","article-title":"MYH9 gene mutations associated with bleeding","volume":"28","author":"Savoia","year":"2017","journal-title":"Platelets"},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Bastida, J.M., Benito, R., Gonzalez-Porras, J.R., and Rivera, J. (2020). ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction. Platelets, 1\u20135.","DOI":"10.1080\/09537104.2020.1779926"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1859","DOI":"10.1111\/jth.13777","article-title":"Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: A brief review of hematologic abnormalities of sitosterolemia","volume":"15","author":"Bastida","year":"2017","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/humu.23355","article-title":"Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies","volume":"39","author":"Jenkins","year":"2018","journal-title":"Hum. Mutat."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"5928","DOI":"10.1182\/blood-2011-07-365601","article-title":"Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome","volume":"118","author":"Nurden","year":"2011","journal-title":"Blood"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1080\/09537104.2020.1748587","article-title":"FLNA variants associated with disorders of platelet number or function","volume":"31","author":"Vassallo","year":"2020","journal-title":"Platelets"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1080\/09537104.2017.1411587","article-title":"TUBB1 variants and human platelet traits","volume":"29","author":"Burley","year":"2018","journal-title":"Platelets"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1182\/blood-2008-06-162610","article-title":"Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly","volume":"113","author":"Kunishima","year":"2009","journal-title":"Blood"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1080\/09537104.2017.1356455","article-title":"ACTN1 variants associated with thrombocytopenia","volume":"28","author":"Westbury","year":"2017","journal-title":"Platelets"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/j.ajhg.2013.01.015","article-title":"ACTN1 mutations cause congenital macrothrombocytopenia","volume":"92","author":"Kunishima","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"2341","DOI":"10.1182\/bloodadvances.2018020370","article-title":"Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder","volume":"2","author":"Westbury","year":"2018","journal-title":"Blood Adv."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"3600","DOI":"10.1172\/JCI80347","article-title":"SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects","volume":"125","author":"Fletcher","year":"2015","journal-title":"J. Clin. Investig."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1080\/09537104.2019.1648781","article-title":"SLFN14 gene mutations associated with bleeding","volume":"31","author":"Stapley","year":"2020","journal-title":"Platelets"},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Barozzi, S., Di Buduo, C.A., Marconi, C., Bozzi, V., Seri, M., Romano, F., Balduini, A., and Pecci, A. (2020). Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC. Haematologica, 918\u2013922. Online ahead of print.","DOI":"10.3324\/haematol.2020.268516"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1080\/09537104.2019.1628197","article-title":"De novo variant in tyrosine kinase SRC causes thrombocytopenia: Case report of a second family","volume":"30","author":"Thys","year":"2019","journal-title":"Platelets"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"328ra330","DOI":"10.1126\/scitranslmed.aad7666","article-title":"A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies","volume":"8","author":"Turro","year":"2016","journal-title":"Sci. Transl. Med."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1172\/JCI86154","article-title":"Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia","volume":"127","author":"Pleines","year":"2017","journal-title":"J. Clin. Investig."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"11097","DOI":"10.1038\/ncomms11097","article-title":"Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg(2+) homeostasis and cytoskeletal architecture","volume":"7","author":"Stritt","year":"2016","journal-title":"Nat. Commun."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"2554","DOI":"10.1182\/blood-2014-01-551820","article-title":"A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene","volume":"124","author":"Manchev","year":"2014","journal-title":"Blood"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/j.ajhg.2017.12.015","article-title":"Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes","volume":"102","author":"Martinelli","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1002\/ajmg.a.37526","article-title":"Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia","volume":"170A","author":"Takenouchi","year":"2016","journal-title":"Am. J. Med. Genet. Part. A"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"1855","DOI":"10.1182\/blood-2018-04-847798","article-title":"Mutation in GNE is associated with severe congenital thrombocytopenia","volume":"132","author":"Futterer","year":"2018","journal-title":"Blood"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"1535","DOI":"10.1111\/jth.14874","article-title":"Multifaceted role of glycosylation in transfusion medicine, platelets, and red blood cells","volume":"18","author":"Stowell","year":"2020","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1182\/blood-2018-04-845545","article-title":"GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting","volume":"132","author":"Shai","year":"2018","journal-title":"Blood"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1093\/hmg\/ddy334","article-title":"Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE)","volume":"28","author":"Seo","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"e613","DOI":"10.3324\/haematol.2018.198028","article-title":"A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation","volume":"103","author":"Kauskot","year":"2018","journal-title":"Haematologica"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"4250","DOI":"10.1038\/s41467-018-06713-0","article-title":"Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia","volume":"9","author":"Latham","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s10875-017-0453-z","article-title":"Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome","volume":"38","author":"Candotti","year":"2018","journal-title":"J. Clin. Immunol."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1111\/bjh.15831","article-title":"How I manage patients with Wiskott Aldrich syndrome","volume":"185","author":"Rivers","year":"2019","journal-title":"Br. J. Haematol."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1111\/jth.12966","article-title":"Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia","volume":"13","author":"Levin","year":"2015","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1182\/blood-2018-01-829259","article-title":"ADAP deficiency impairs megakaryocyte polarization with ectopic proplatelet release and causes microthrombocytopenia","volume":"132","author":"Spindler","year":"2018","journal-title":"Blood"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"2362","DOI":"10.1182\/blood-2018-07-863431","article-title":"T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency","volume":"132","author":"Brigida","year":"2018","journal-title":"Blood"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"14816","DOI":"10.1038\/ncomms14816","article-title":"Loss of the Arp2\/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease","volume":"8","author":"Kahr","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"1346","DOI":"10.1182\/blood-2018-07-859496","article-title":"Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia","volume":"133","author":"Marconi","year":"2019","journal-title":"Blood"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/j.blre.2017.03.005","article-title":"Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses?","volume":"31","author":"Nurden","year":"2017","journal-title":"Blood Rev."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1080\/09537104.2017.1371291","article-title":"ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia","volume":"29","author":"Nurden","year":"2018","journal-title":"Platelets"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1002\/humu.22776","article-title":"Expanding the Mutation Spectrum Affecting alphaIIbbeta3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort","volume":"36","author":"Nurden","year":"2015","journal-title":"Hum. Mutat."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"2102","DOI":"10.1182\/blood-2010-08-263111","article-title":"The platelet P2Y(1)(2) receptor for adenosine diphosphate: Congenital and drug-induced defects","volume":"117","author":"Cattaneo","year":"2011","journal-title":"Blood"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1080\/09537104.2017.1316484","article-title":"P2Y(1)(2) receptor gene mutations associated with bleeding","volume":"28","author":"Scavone","year":"2017","journal-title":"Platelets"},{"key":"ref_95","doi-asserted-by":"crossref","unstructured":"Mundell, S.J., and Mumford, A. (2018). TBXA2R gene variants associated with bleeding. Platelets, 1\u20134.","DOI":"10.1080\/09537104.2018.1499888"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1080\/09537104.2019.1610166","article-title":"Platelet glycoprotein VI genetic quantitative and qualitative defects","volume":"30","author":"Hermans","year":"2019","journal-title":"Platelets"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"1751","DOI":"10.1111\/jth.12334","article-title":"An adenine insertion in exon 6 of human GP6 generates a truncated protein associated with a bleeding disorder in four Chilean families","volume":"11","author":"Matus","year":"2013","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"2067","DOI":"10.1182\/blood-2018-04-845644","article-title":"A mutation of the human EPHB2 gene leads to a major platelet functional defect","volume":"132","author":"Berrou","year":"2018","journal-title":"Blood"},{"key":"ref_99","doi-asserted-by":"crossref","unstructured":"Dupuis, A., Bordet, J.C., Eckly, A., and Gachet, C. (2020). Platelet delta-Storage Pool Disease: An Update. J. Clin. Med., 9.","DOI":"10.3390\/jcm9082508"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1586\/ehm.11.5","article-title":"Quebec platelet disorder","volume":"4","author":"Hayward","year":"2011","journal-title":"Expert Rev. Hematol."},{"key":"ref_101","first-page":"2679","article-title":"Enhancer-gene rewiring in the pathogenesis of Quebec platelet disorder","volume":"136","author":"Liang","year":"2020","journal-title":"Blood"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1080\/07853890.2019.1587498","article-title":"Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing","volume":"51","author":"Bastida","year":"2019","journal-title":"Ann. Med."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1080\/09537104.2019.1663810","article-title":"Genetic variants associated with Hermansky-Pudlak syndrome","volume":"31","author":"Merideth","year":"2020","journal-title":"Platelets"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"301","DOI":"10.5482\/HAMO-14-06-0024","article-title":"Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant","volume":"34","author":"Torregrosa","year":"2014","journal-title":"Hamostaseologie"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1002\/humu.23968","article-title":"Hermansky-Pudlak syndrome: Mutation update","volume":"41","author":"Huizing","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1186\/s13023-014-0132-6","article-title":"Towards the targeted management of Chediak-Higashi syndrome","volume":"9","author":"Lozano","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_107","doi-asserted-by":"crossref","unstructured":"Castano-Jaramillo, L.M., Lugo-Reyes, S.O., Cruz Munoz, M.E., Scheffler-Mendoza, S.C., Duran McKinster, C., Yamazaki-Nakashimada, M.A., Espinosa-Padilla, S.E., and Saez-de-Ocariz Gutierrez, M.D.M. (2021). Diagnostic and therapeutic caveats in Griscelli syndrome. Scand. J. Immunol., e13034.","DOI":"10.1111\/sji.13034"},{"key":"ref_108","doi-asserted-by":"crossref","unstructured":"Chan, M.V., Hayman, M.A., Sivapalaratnam, S., Crescente, M., Allan, H.E., Edin, M.L., Zeldin, D.C., Milne, G.L., Stephens, J., and Greene, D. (2020). Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function. Haematologica.","DOI":"10.3324\/haematol.2019.235895"},{"key":"ref_109","doi-asserted-by":"crossref","unstructured":"Palma-Barqueros, V., Bohdan, N., Revilla, N., Vicente, V., Bastida, J.M., and Rivera, J. (2020). PTGS1 gene variations associated with bleeding and platelet dysfunction. Platelets, 1\u20137.","DOI":"10.1080\/09537104.2020.1782370"},{"key":"ref_110","first-page":"E83","article-title":"A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis","volume":"96","author":"Crescente","year":"2021","journal-title":"Am. J. Hematol."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1111\/bjh.12662","article-title":"Congenital platelet disorders and understanding of platelet function","volume":"165","author":"Nurden","year":"2014","journal-title":"Br. J. Haematol."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/j.hoc.2013.02.005","article-title":"Inherited platelet function disorders: Overview and disorders of granules, secretion, and signal transduction","volume":"27","author":"Rao","year":"2013","journal-title":"Hematol. Oncol. Clin. N. Am."},{"key":"ref_113","doi-asserted-by":"crossref","unstructured":"Canault, M., and Alessi, M.C. (2020). RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21031075"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1182\/blood-2015-11-683102","article-title":"Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction","volume":"128","author":"Lozano","year":"2016","journal-title":"Blood"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1080\/09537104.2019.1585528","article-title":"RASGRP2 gene variations associated with platelet dysfunction and bleeding","volume":"30","author":"Bohdan","year":"2019","journal-title":"Platelets"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1242\/jcs.161190","article-title":"The kindlin family: Functions, signaling properties and implications for human disease","volume":"129","author":"Rognoni","year":"2016","journal-title":"J. Cell Sci."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1182\/blood-2011-02-337188","article-title":"Defects in Glanzmann thrombasthenia and LAD-III (LAD-1\/v) syndrome: The role of integrin beta1 and beta3 in platelet adhesion to collagen","volume":"119","author":"Gerrits","year":"2012","journal-title":"Blood"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1080\/09537104.2019.1693039","article-title":"Gene of the issue: ANO6 and Scott Syndrome","volume":"31","author":"Harper","year":"2020","journal-title":"Platelets"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1186\/s13023-014-0213-6","article-title":"Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: Results from a collaborative study","volume":"9","author":"Anton","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1111\/jth.14683","article-title":"Validation of the ISTH\/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC","volume":"18","author":"Gresele","year":"2020","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1111\/hae.13255","article-title":"Bleeding is not the main clinical issue in many patients with inherited thrombocytopaenias","volume":"23","author":"Melazzini","year":"2017","journal-title":"Haemoph. Off. J. World Fed. Hemoph."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1080\/09537104.2020.1760229","article-title":"ETV6-related thrombocytopenia and platelet dysfunction","volume":"32","author":"Fisher","year":"2021","journal-title":"Platelets"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1080\/09537104.2017.1356918","article-title":"Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?","volume":"29","author":"Nava","year":"2018","journal-title":"Platelets"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"148","DOI":"10.3324\/haematol.2017.171132","article-title":"Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders","volume":"103","author":"Bastida","year":"2018","journal-title":"Haematologica"},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"2082","DOI":"10.1182\/blood.2018891192","article-title":"Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders","volume":"134","author":"Downes","year":"2019","journal-title":"Blood"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.3324\/haematol.2016.146316","article-title":"Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects","volume":"101","author":"Johnson","year":"2016","journal-title":"Haematologica"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"2751","DOI":"10.1111\/jth.14993","article-title":"Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH","volume":"18","author":"Downes","year":"2020","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"2478","DOI":"10.1182\/blood-2019-01-852350","article-title":"Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it any easier","volume":"133","author":"Greinacher","year":"2019","journal-title":"Blood"},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1111\/bjh.13405","article-title":"Current status and future prospects for platelet function testing in the diagnosis of inherited bleeding disorders","volume":"170","author":"Dovlatova","year":"2015","journal-title":"Br. J. Haematol."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1111\/jth.12792","article-title":"Diagnosis of inherited platelet function disorders: Guidance from the SSC of the ISTH","volume":"13","author":"Gresele","year":"2015","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1055\/s-0035-1570078","article-title":"Inherited Platelet Function Disorders: Algorithms for Phenotypic and Genetic Investigation","volume":"42","author":"Gresele","year":"2016","journal-title":"Semin. Thromb. Hemost."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1111\/jth.13729","article-title":"Diagnosis of inherited platelet disorders on a blood smear: A tool to facilitate worldwide diagnosis of platelet disorders","volume":"15","author":"Greinacher","year":"2017","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_133","doi-asserted-by":"crossref","unstructured":"Zaninetti, C., and Greinacher, A. (2020). Diagnosis of Inherited Platelet Disorders on a Blood Smear. J. Clin. Med., 9.","DOI":"10.3390\/jcm9020539"},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1056\/NEJM197207272870401","article-title":"The bleeding time as a screening test for evaluation of platelet function","volume":"287","author":"Harker","year":"1972","journal-title":"New Engl. J. Med."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1111\/j.1538-7836.2004.00693.x","article-title":"Template bleeding time and PFA-100 have low sensitivity to screen patients with hereditary mucocutaneous hemorrhages: Comparative study in 148 patients","volume":"2","author":"Quiroga","year":"2004","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1111\/j.1538-7836.2006.01771.x","article-title":"Platelet function analyzer (PFA)-100 closure time in the evaluation of platelet disorders and platelet function","volume":"4","author":"Hayward","year":"2006","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_137","doi-asserted-by":"crossref","unstructured":"Le Blanc, J., Mullier, F., Vayne, C., and Lordkipanidze, M. (2020). Advances in Platelet Function Testing-Light Transmission Aggregometry and Beyond. J. Clin. Med., 9.","DOI":"10.3390\/jcm9082636"},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1080\/09537104.2018.1498665","article-title":"Performance and usefulness of platelet aggregation testing","volume":"29","author":"Rivera","year":"2018","journal-title":"Platelets"},{"key":"ref_139","doi-asserted-by":"crossref","unstructured":"Alessi, M.C., Sie, P., and Payrastre, B. (2020). Strengths and Weaknesses of Light Transmission Aggregometry in Diagnosing Hereditary Platelet Function Disorders. J. Clin. Med., 9.","DOI":"10.3390\/jcm9030763"},{"key":"ref_140","doi-asserted-by":"crossref","unstructured":"Cattaneo, M., Cerletti, C., Harrison, P., Hayward, C.P., Kenny, D., Nugent, D., Nurden, P., Rao, A.K., Schmaier, A.H., and Watson, S.P. (2013). Recommendations for the Standardization of Light Transmission Aggregometry: A Consensus of the Working Party from the Platelet Physiology Subcommittee of SSC\/ISTH. J. Thromb. Haemost. JTH.","DOI":"10.1111\/jth.12231"},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1111\/jth.13952","article-title":"Validation of flow cytometric analysis of platelet function in patients with a suspected platelet function defect","volume":"16","author":"Schutgens","year":"2018","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_142","first-page":"47","article-title":"Electron microscopy methods for studying platelet structure and function","volume":"272","author":"White","year":"2004","journal-title":"Methods Mol. Biol"},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1111\/bjh.14863","article-title":"Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Oresund Region, Scandinavia","volume":"179","author":"Leinoe","year":"2017","journal-title":"Br. J. Haematol."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1111\/j.1538-7836.2010.03975.x","article-title":"ISTH\/SSC bleeding assessment tool: A standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders","volume":"8","author":"Rodeghiero","year":"2010","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_145","doi-asserted-by":"crossref","unstructured":"Bastida, J.M., Del Rey, M., Revilla, N., Benito, R., Perez-Andres, M., Gonzalez, B., Riesco, S., Janusz, K., Padilla, J., and Benito-Sendin, A.H. (2016). Wiskott-Aldrich syndrome in a child presenting with macrothrombocytopenia. Platelets, 1\u20134.","DOI":"10.1080\/09537104.2016.1246715"},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1111\/ijlh.12812","article-title":"High-throughput sequencing for diagnosing platelet disorders: Lessons learned from exploring the causes of bleeding disorders","volume":"40","author":"Heremans","year":"2018","journal-title":"Int. J. Lab. Hematol."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1111\/jth.14479","article-title":"Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH","volume":"17","author":"Megy","year":"2019","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1111\/bjh.14796","article-title":"Diagnosis of inherited bleeding disorders in the genomic era","volume":"179","author":"Sivapalaratnam","year":"2017","journal-title":"Br. J. Haematol."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1111\/jth.14945","article-title":"Strengths and limitations of high-throughput sequencing for the diagnosis of inherited bleeding and platelet disorders","volume":"18","author":"Downes","year":"2020","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_150","first-page":"405","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1111\/jth.14377","article-title":"Diagnosis of hereditary platelet disorders in the era of next-generation sequencing: \u201cprimum non nocere\u201d","volume":"17","author":"Greinacher","year":"2019","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1002\/humu.23927","article-title":"Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants","volume":"41","author":"Bury","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1111\/bjh.12797","article-title":"Somatic mosaicism in MYH9 disorders: The need to carefully evaluate apparently healthy parents","volume":"165","author":"Kunishima","year":"2014","journal-title":"Br. J. Haematol."},{"key":"ref_154","doi-asserted-by":"crossref","unstructured":"Rodeghiero, F., Pecci, A., and Balduini, C.L. (2018). Thrombopoietin receptor agonists in hereditary thrombocytopenias. J. Thromb. Haemost. JTH.","DOI":"10.1111\/jth.14217"},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"2391","DOI":"10.1182\/blood-2016-03-643544","article-title":"The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia","volume":"127","author":"Arber","year":"2016","journal-title":"Blood"},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1080\/09537104.2017.1280151","article-title":"Gene of the issue: RUNX1 mutations and inherited bleeding","volume":"28","author":"Morgan","year":"2017","journal-title":"Platelets"},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"2962","DOI":"10.1182\/bloodadvances.2019000644","article-title":"ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants","volume":"3","author":"Luo","year":"2019","journal-title":"Blood Adv."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1182\/bloodadvances.2020002442","article-title":"Neutrophil specific granule and NETosis defects in gray platelet syndrome","volume":"5","author":"Aarts","year":"2021","journal-title":"Blood Adv."},{"key":"ref_159","doi-asserted-by":"crossref","unstructured":"Tariq, H., Perez Botero, J., Higgins, R.A., and Medina, E.A. (2021). Gray Platelet Syndrome Presenting With Pancytopenia, Splenomegaly, and Bone Marrow Fibrosis. Am. J. Clin. Pathol.","DOI":"10.1093\/ajcp\/aqaa229"},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1002\/ajh.24359","article-title":"Should any genetic defect affecting alpha-granules in platelets be classified as gray platelet syndrome?","volume":"91","author":"Nurden","year":"2016","journal-title":"Am. J. Hematol."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"2070","DOI":"10.1002\/ajmg.a.40504","article-title":"Molecular genetics of 22q11.2 deletion syndrome","volume":"176","author":"Morrow","year":"2018","journal-title":"Am. J. Med Genet. Part. A"},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"700","DOI":"10.3324\/haematol.2008.003178","article-title":"Platelet receptors and signaling in the dynamics of thrombus formation","volume":"94","author":"Rivera","year":"2009","journal-title":"Haematologica"},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"888","DOI":"10.3324\/haematol.2018.214239","article-title":"Glanzmann thrombasthenia: Genetic basis and clinical correlates","volume":"105","author":"Botero","year":"2020","journal-title":"Haematologica"},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1111\/j.1365-2141.2010.08191.x","article-title":"Modern management of severe platelet function disorders","volume":"149","author":"Alamelu","year":"2010","journal-title":"Br. J. Haematol."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1111\/bjh.15409","article-title":"How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults","volume":"182","author":"Grainger","year":"2018","journal-title":"Br. J. Haematol."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.tmrv.2016.01.001","article-title":"New Insights Into the Treatment of Glanzmann Thrombasthenia","volume":"30","author":"Poon","year":"2016","journal-title":"Transfus. Med. Rev."},{"key":"ref_167","doi-asserted-by":"crossref","unstructured":"Orsini, S., Noris, P., Bury, L., Heller, P.G., Santoro, C., Kadir, R.A., Butta, N.C., Falcinelli, E., Cid, A.R., and Fabris, F. (2017). Bleeding risk of surgery and its prevention in patients with inherited platelet disorders. The Surgery in Platelet disorders And Therapeutic Approach (SPATA) study. Haematologica.","DOI":"10.3324\/haematol.2016.160754"},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1097\/MBC.0b013e3280147fd8","article-title":"Recombinant activated factor VII for hemostatic cover of orthopedic interventions in a girl with thrombocytopenia with absent radii syndrome","volume":"18","author":"Coppola","year":"2007","journal-title":"Blood Coagul. Fibrinolysis Int. J. Haemost. Thromb."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1111\/j.1365-2516.2008.01902.x","article-title":"Clinical benefit of recombinant factor VIIa in management of bleeds and surgery in two brothers suffering from the Bernard-Soulier syndrome","volume":"15","author":"Tefre","year":"2009","journal-title":"Haemoph. Off. J. World Fed. Hemoph."},{"key":"ref_170","doi-asserted-by":"crossref","unstructured":"Lee, A., and Poon, M.C. (2018). Inherited platelet functional disorders: General principles and practical aspects of management. Transfus. Apher. Sci. Off. J. World Apher. Assoc. Off. J. Eur. Soc. Haemapheresis.","DOI":"10.1016\/j.transci.2018.07.010"},{"key":"ref_171","doi-asserted-by":"crossref","unstructured":"Lee, R.H., Piatt, R., Dhenge, A., Lozano, M.L., Palma-Barqueros, V., Rivera, J., and Bergmeier, W. (2019). Impaired hemostatic activity of healthy transfused platelets in inherited and acquired platelet disorders: Mechanisms and implications. Sci. Transl. Med., 11.","DOI":"10.1126\/scitranslmed.aay0203"},{"key":"ref_172","doi-asserted-by":"crossref","unstructured":"Dupuis, A., and Gachet, C. (2018). Inherited platelet disorders: Management of the bleeding risk. Transfus. Clin. Biol. J. Soc. Fr. Transfus. Sang.","DOI":"10.1016\/j.tracli.2018.07.003"},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"820","DOI":"10.3324\/haematol.2019.223966","article-title":"Eltrombopag for the treatment of inherited thrombocytopenias: A phase II clinical trial","volume":"105","author":"Zaninetti","year":"2020","journal-title":"Haematologica"},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1111\/cge.12603","article-title":"Diagnosis and treatment of inherited thrombocytopenias","volume":"89","author":"Pecci","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1186\/1750-1172-9-100","article-title":"Cochlear implantation is safe and effective in patients with MYH9-related disease","volume":"9","author":"Pecci","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"1887","DOI":"10.1002\/ccr3.1206","article-title":"Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia","volume":"5","author":"Cid","year":"2017","journal-title":"Clin. Case Rep."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"E31","DOI":"10.1111\/petr.12175","article-title":"Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: Report of a case and review of the literature","volume":"18","author":"Woods","year":"2014","journal-title":"Pediatric Transplant."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1182\/blood-2010-11-319376","article-title":"Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980\u20132009: An international collaborative study","volume":"118","author":"Moratto","year":"2011","journal-title":"Blood"},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"2094","DOI":"10.1182\/blood.2019002939","article-title":"Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: A PIDTC report","volume":"135","author":"Burroughs","year":"2020","journal-title":"Blood"},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"e239","DOI":"10.1016\/S2352-3026(19)30021-3","article-title":"Lentiviral haemopoietic stem\/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: Interim results of a non-randomised, open-label, phase 1\/2 clinical study","volume":"6","author":"Ferrua","year":"2019","journal-title":"Lancet. Haematol."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1001\/jama.2015.3253","article-title":"Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome","volume":"313","author":"Gaspar","year":"2015","journal-title":"JAMA"},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1182\/blood-2017-04-777136","article-title":"Gene therapy for Wiskott-Aldrich syndrome in a severely affected adult","volume":"130","author":"Morris","year":"2017","journal-title":"Blood"},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1016\/j.jaci.2019.03.012","article-title":"Lentiviral gene therapy corrects platelet phenotype and function in patients with Wiskott-Aldrich syndrome","volume":"144","author":"Sereni","year":"2019","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1182\/blood-2015-07-607937","article-title":"Megakaryocyte- and megakaryocyte precursor-related gene therapies","volume":"127","author":"Wilcox","year":"2016","journal-title":"Blood"},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"2671","DOI":"10.1182\/blood-2004-12-4619","article-title":"Therapeutic expression of the platelet-specific integrin, alphaIIbbeta3, in a murine model for Glanzmann thrombasthenia","volume":"106","author":"Fang","year":"2005","journal-title":"Blood"},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"9583","DOI":"10.1073\/pnas.1016394108","article-title":"Platelet gene therapy improves hemostatic function for integrin alphaIIbbeta3-deficient dogs","volume":"108","author":"Fang","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"2300","DOI":"10.1046\/j.1538-7836.2003.00476.x","article-title":"Gene therapy for platelet disorders: Studies with Glanzmann\u2019s thrombasthenia","volume":"1","author":"Wilcox","year":"2003","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1038\/mt.2011.231","article-title":"Correction of murine Bernard-Soulier syndrome by lentivirus-mediated gene therapy","volume":"20","author":"Kanaji","year":"2012","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"1815","DOI":"10.1182\/bloodadvances.2016002915","article-title":"Gene editing rescue of a novel MPL mutant associated with congenital amegakaryocytic thrombocytopenia","volume":"1","author":"Cleyrat","year":"2017","journal-title":"Blood Adv."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/9\/4521\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T05:53:02Z","timestamp":1760161982000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/9\/4521"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,26]]},"references-count":189,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2021,5]]}},"alternative-id":["ijms22094521"],"URL":"https:\/\/doi.org\/10.3390\/ijms22094521","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,26]]}}}