{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T09:03:01Z","timestamp":1792918981722,"version":"4.5.0"},"reference-count":75,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T00:00:00Z","timestamp":1761782400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Instituto de Salud Carlos III (ISCIII) & Feder","award":["PI23\/00624"],"award-info":[{"award-number":["PI23\/00624"]}]},{"name":"Instituto de Salud Carlos III (ISCIII) & Feder","award":["PI24\/01458"],"award-info":[{"award-number":["PI24\/01458"]}]},{"name":"ISCIII & European Union-NextGeneration EU and for PRTR","award":["PMP21\/00052"],"award-info":[{"award-number":["PMP21\/00052"]}]},{"name":"ISCIII & CIBER","award":["CB15\/00055"],"award-info":[{"award-number":["CB15\/00055"]}]},{"DOI":"10.13039\/100007801","name":"Fundaci\u00f3n S\u00e9neca-Agencia de Ciencia y Tecnolog\u00eda de la Regi\u00f3n de Murcia","doi-asserted-by":"publisher","award":["21920\/PI\/22"],"award-info":[{"award-number":["21920\/PI\/22"]}],"id":[{"id":"10.13039\/100007801","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Gerencia Regional de Salud","award":["GRS2551\/A\/22"],"award-info":[{"award-number":["GRS2551\/A\/22"]}]},{"name":"Gerencia Regional de Salud","award":["GRS2907\/A1\/2023"],"award-info":[{"award-number":["GRS2907\/A1\/2023"]}]},{"name":"Gerencia Regional de Salud","award":["GRS2727\/A1\/23"],"award-info":[{"award-number":["GRS2727\/A1\/23"]}]},{"DOI":"10.13039\/100031670","name":"Sociedad Espa\u00f1ola de Trombosis y Hemostasia","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100031670","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100031670","name":"SETH","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100031670","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>Inherited platelet function disorders (IPFD) are characterized by normal platelet count and morphology but impaired function due to pathogenic variants in genes encoding membrane receptors, granule constituents, or intracellular signaling proteins. Glanzmann\u2019s thrombasthenia, the most representative IPFD, results from ITGA2B or ITGB3 mutations that disrupt the \u03b1IIb\u03b23 integrin complex, producing severe mucocutaneous bleeding. Advances in molecular genetics have expanded the IPFDs landscape to include defects in other platelet receptors (Glycoprotein (GP)-VI, P2Y12, and thromboxane A2[TxA2]-R), signaling mediators (RASGRP2, FERMT3, G-protein regulators, PLC, and TxA2 pathway enzymes), and granule biogenesis disorders such as Hermansky\u2013Pudlak and Chediak\u2013Higashi syndromes. High-throughput sequencing technologies, including long-read approaches, have greatly improved diagnostic yield and clarified genotype\u2013phenotype correlations. Clinically, bleeding severity varies from mild to life-threatening, and management relies on antifibrinolytics, desmopressin, or platelet transfusion; recombinant activated factor VII and hematopoietic stem cell transplantation are reserved for selected cases. Emerging strategies such as gene therapy and bispecific antibodies that link platelets and coagulation factors represent promising advances toward targeted and preventive treatment. A better knowledge of the clinical features and understanding molecular pathogenesis of IPFDs not only enhances diagnostic precision and therapeutic options but also provides key insights into platelet biology, intracellular signaling, and the broader mechanisms of human hemostasis.<\/jats:p>","DOI":"10.3390\/biom15111528","type":"journal-article","created":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T01:23:59Z","timestamp":1761873839000},"page":"1528","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Molecular Pathogenesis of Inherited Platelet Dysfunction"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3583-2977","authenticated-orcid":false,"given":"Agust\u00edn","family":"Rodr\u00edguez-Al\u00e9n","sequence":"first","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Universitario de Toledo, 45007 Toledo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2865-1417","authenticated-orcid":false,"given":"Antonio","family":"Moscard\u00f3","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Universitario y Polit\u00e9cnico La Fe, Instituto de Investigaci\u00f3n Sanitaria La Fe, 46001 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8007-3909","authenticated-orcid":false,"given":"Jos\u00e9 M.","family":"Bastida","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigaci\u00f3n Biom\u00e9dica de Salamanca (IBSAL), Universidad de Salamanca (USAL), 37008 Salamanca, 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, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonaci\u00f3n, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-ISCIII, 30003 Murcia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,30]]},"reference":[{"key":"ref_1","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_2","doi-asserted-by":"crossref","unstructured":"Palma-Barqueros, V., Revilla, N., Sanchez, A., Zamora Canovas, A., Rodriguez-Alen, A., Marin-Quilez, A., Gonzalez-Porras, J.R., Vicente, V., Lozano, M.L., and Bastida, J.M. (2021). Inherited Platelet Disorders: An Updated Overview. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22094521"},{"key":"ref_3","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. North Am."},{"key":"ref_4","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_5","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1055\/s-0044-1782519","article-title":"Glanzmann Thrombasthenia 10 Years Later: Progress Made and Future Directions","volume":"51","author":"Nurden","year":"2025","journal-title":"Semin. Thromb. Hemost."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"581","DOI":"10.2147\/JBM.S273053","article-title":"Profiling the Genetic and Molecular Characteristics of Glanzmann Thrombasthenia: Can It Guide Current and Future Therapies?","volume":"12","author":"Nurden","year":"2021","journal-title":"J. Blood Med."},{"key":"ref_7","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_8","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1111\/hae.15126","article-title":"One day at a time: Life with Glanzmann thrombasthenia\u2014Qualitative results from the GT 360 study","volume":"30","author":"Khair","year":"2024","journal-title":"Haemoph. Off. J. World Fed. Hemoph."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"449","DOI":"10.2147\/JBM.S271744","article-title":"Glanzmann Thrombasthenia: Perspectives from Clinical Practice on Accurate Diagnosis and Optimal Treatment Strategies","volume":"12","author":"Mathews","year":"2021","journal-title":"J. Blood Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1111\/hae.70030","article-title":"Obstetric and Gynaecological Challenges and Outcomes in Women and Girls With Glanzmann\u2019s Thrombasthenia","volume":"31","author":"Tarawah","year":"2025","journal-title":"Haemoph. Off. J. World Fed. Hemoph."},{"key":"ref_11","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_12","doi-asserted-by":"crossref","unstructured":"Sanchez-Fuentes, A., Perez-Botero, J., Bastida, J.M., and Rivera, J. (2025). Diagnosis of Inherited Platelet Disorders: Clinical Evaluation and Functional and Molecular Assays. Biomolecules, 15.","DOI":"10.3390\/biom15060846"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1182\/blood.V75.7.1383.1383","article-title":"Glanzmann\u2019s thrombasthenia: The spectrum of clinical disease","volume":"75","author":"George","year":"1990","journal-title":"Blood"},{"key":"ref_14","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_15","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_16","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1016\/j.jtha.2023.11.007","article-title":"Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders","volume":"22","author":"Male","year":"2024","journal-title":"J. Thromb. Haemost. JTH."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1182\/bloodadvances.2020003712","article-title":"Specifications of the variant curation guidelines for ITGA2B\/ITGB3: ClinGen Platelet Disorder Variant Curation Panel","volume":"5","author":"Ross","year":"2021","journal-title":"Blood Adv."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"100784","DOI":"10.1016\/j.blre.2020.100784","article-title":"Inherited thrombocytopenias: An updated guide for clinicians","volume":"48","author":"Pecci","year":"2021","journal-title":"Blood Rev."},{"key":"ref_19","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_20","doi-asserted-by":"crossref","unstructured":"Almazni, I., Stapley, R., and Morgan, N.V. (2019). Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding. Front. Cardiovasc. Med., 6.","DOI":"10.3389\/fcvm.2019.00080"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1055\/s-0031-1291380","article-title":"Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the alphaIIbbeta3 integrin","volume":"37","author":"Nurden","year":"2011","journal-title":"Semin. Thromb. Hemost."},{"key":"ref_22","first-page":"1031","article-title":"The international, prospective Glanzmann Thrombasthenia Registry: Treatment modalities and outcomes of non-surgical bleeding episodes in patients with Glanzmann thrombasthenia","volume":"100","author":"Zotz","year":"2015","journal-title":"Haematologica"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1186\/s13023-023-02787-2","article-title":"Emergency management of patients with Glanzmann thrombasthenia: Consensus recommendations from the French reference center for inherited platelet disorders","volume":"18","author":"Fiore","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Nurden, A.T. (2018). Acquired Antibodies to alphaIIbbeta3 in Glanzmann Thrombasthenia: From Transfusion and Pregnancy to Bone Marrow Transplants and Beyond. Transfus. Med. Rev.","DOI":"10.1016\/j.tmrv.2018.05.002"},{"key":"ref_25","first-page":"e201","article-title":"Natural history of platelet antibody formation against alphaIIbbeta3 in a French cohort of Glanzmann thrombasthenia patients","volume":"18","author":"Fiore","year":"2012","journal-title":"Haemoph. Off. J. World Fed. Hemoph."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1111\/hae.15130","article-title":"Efficacy and safety of recombinant activated factor VII in Glanzmann thrombasthenia: A systematic literature review","volume":"31","author":"Saultier","year":"2025","journal-title":"Haemoph. Off. J. World Fed. Hemoph."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"305","DOI":"10.5482\/HAMO-12-08-0014","article-title":"Indication for allogeneic stem cell transplantation in Glanzmann\u2019s thrombasthenia","volume":"33","author":"Wiegering","year":"2013","journal-title":"Hamostaseologie"},{"key":"ref_28","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_29","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1055\/s-0041-1722862","article-title":"Gene Therapy for Inherited Bleeding Disorders","volume":"47","author":"Arruda","year":"2021","journal-title":"Semin. Thromb. Hemost."},{"key":"ref_30","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_31","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1038\/s44161-023-00418-4","article-title":"A bispecific antibody approach for the potential prophylactic treatment of inherited bleeding disorders","volume":"3","author":"Gandhi","year":"2024","journal-title":"Nat. Cardiovasc. Res."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1016\/j.jtha.2023.03.022","article-title":"Glycoprotein VI interplay with fibrin(ogen) in thrombosis","volume":"21","author":"Mangin","year":"2023","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_33","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_34","doi-asserted-by":"crossref","first-page":"100592","DOI":"10.1016\/j.blre.2019.100592","article-title":"Clinical significance of altered collagen-receptor functioning in platelets with emphasis on glycoprotein VI","volume":"38","author":"Nurden","year":"2019","journal-title":"Blood Rev."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1093\/ehjcvp\/pvae018","article-title":"GPVI inhibition: Advancing antithrombotic therapy in cardiovascular disease","volume":"10","author":"Slater","year":"2024","journal-title":"Eur. Heart J. Cardiovasc. Pharmacother."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"S10","DOI":"10.1111\/jth.12952","article-title":"P2Y12 receptors: Structure and function","volume":"13","author":"Cattaneo","year":"2015","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"279","DOI":"10.5482\/HAMO-16-03-0010","article-title":"Inherited dysfunctional platelet P2Y12 receptor mutations associated with bleeding disorders","volume":"36","author":"Lecchi","year":"2016","journal-title":"Hamostaseologie"},{"key":"ref_38","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_39","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_40","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1080\/09537104.2018.1499888","article-title":"TBXA2R gene variants associated with bleeding","volume":"29","author":"Mundell","year":"2018","journal-title":"Platelets"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1182\/blood-2014-06-585083","article-title":"EphB2 regulates contact-dependent and contact-independent signaling to control platelet function","volume":"125","author":"Vaiyapuri","year":"2015","journal-title":"Blood"},{"key":"ref_42","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_43","doi-asserted-by":"crossref","first-page":"2002","DOI":"10.1182\/blood-2018-09-876086","article-title":"EPHB2 regulates platelet activation","volume":"132","author":"Berndt","year":"2018","journal-title":"Blood"},{"key":"ref_44","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_45","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_46","first-page":"104202","article-title":"Identification of novel RASGRP2 mutations in patients with platelet dysfunction","volume":"64","author":"Broojerdi","year":"2025","journal-title":"Transfus. Apher. Sci. Off. J. World Apher. Assoc. Off. J. Eur. Soc. Haemapheresis"},{"key":"ref_47","doi-asserted-by":"crossref","unstructured":"Morais, S., Pereira, M., Lau, C., Goncalves, A., Monteiro, C., Goncalves, M., Oliveira, J., Moreira, L., Cruz, E., and Santos, R. (2021). CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms222212423"},{"key":"ref_48","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_49","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1038\/nm.1931","article-title":"Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation","volume":"15","author":"Svensson","year":"2009","journal-title":"Nat. Med."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"540","DOI":"10.3324\/haematol.2017.176974","article-title":"Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies","volume":"103","author":"Nagy","year":"2018","journal-title":"Haematologica"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"102726","DOI":"10.1016\/j.bcmd.2023.102726","article-title":"Hematologically important mutations: Leukocyte adhesion deficiency (second update)","volume":"99","author":"Roos","year":"2023","journal-title":"Blood Cells Mol. Dis."},{"key":"ref_52","doi-asserted-by":"crossref","unstructured":"Gresele, P., L\u00f3pez, J.A., Angiolillo, D.J., and Page, C.P. (2025). Inherited platelet function disorders: Signal transduction defects. Platelets in Disease: Hemorrhagic Disorders, Springer. [1st ed.].","DOI":"10.1007\/978-3-031-96348-3"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1080\/09537104.2020.1782370","article-title":"PTGS1 gene variations associated with bleeding and platelet dysfunction","volume":"32","author":"Bohdan","year":"2021","journal-title":"Platelets"},{"key":"ref_54","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_55","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1055\/s-0037-1616126","article-title":"Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding","volume":"86","author":"Freson","year":"2001","journal-title":"Thromb. Haemost."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"1594","DOI":"10.1111\/j.1538-7836.2010.03885.x","article-title":"Platelet Gs hypofunction and abnormal morphology resulting from a heterozygous RGS2 mutation","volume":"8","author":"Noe","year":"2010","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1016\/j.jtha.2024.10.016","article-title":"A gain of function variant in RGS18 candidate for a familial mild bleeding syndrome","volume":"23","author":"Vayne","year":"2024","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_58","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_59","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.jtha.2024.11.016","article-title":"Molecular basis of platelet granule defects","volume":"23","author":"Yao","year":"2025","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_60","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_61","doi-asserted-by":"crossref","first-page":"e70025","DOI":"10.1002\/iub.70025","article-title":"Hermansky-Pudlak Syndrome: From Molecular Pathogenesis to Targeted Therapies","volume":"77","author":"Tondi","year":"2025","journal-title":"IUBMB Life"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1097\/MOH.0000000000000766","article-title":"Chediak-Higashi syndrome","volume":"30","author":"Talbert","year":"2023","journal-title":"Curr. Opin. Hematol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"101168","DOI":"10.1016\/j.spen.2024.101168","article-title":"Chediak-Higashi Syndrome: Hair-to-toe spectrum","volume":"52","author":"Greene","year":"2024","journal-title":"Semin. Pediatr. Neurol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1136\/jmg-2023-109420","article-title":"Spectrum of LYST mutations in Chediak-Higashi syndrome: A report of novel variants and a comprehensive review of the literature","volume":"61","author":"Morimoto","year":"2024","journal-title":"J. Med. Genet."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"e13034","DOI":"10.1111\/sji.13034","article-title":"Diagnostic and therapeutic caveats in Griscelli syndrome","volume":"93","year":"2021","journal-title":"Scand. J. Immunol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1186\/s13023-024-03486-2","article-title":"VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review","volume":"19","author":"Kafol","year":"2024","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_67","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_68","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_69","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.1182\/blood.V87.4.1409.bloodjournal8741409","article-title":"Scott syndrome, characterized by impaired transmembrane migration of procoagulant phosphatidylserine and hemorrhagic complications, is an inherited disorder","volume":"87","author":"Toti","year":"1996","journal-title":"Blood"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.1016\/j.jtha.2024.02.021","article-title":"Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome","volume":"22","author":"Montague","year":"2024","journal-title":"J. Thromb. Haemost. JTH"},{"key":"ref_71","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_72","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1542\/pir.2024-006425","article-title":"The Bleeding Child: Recognizing Inherited Platelet Function Disorders","volume":"46","author":"Cooper","year":"2025","journal-title":"Pediatr. Rev."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"265","DOI":"10.5482\/HAMO-16-02-0002","article-title":"Inherited platelet function disorders. Diagnostic approach and management","volume":"36","author":"Gresele","year":"2016","journal-title":"Hamostaseologie"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/j.transci.2018.07.010","article-title":"Inherited platelet functional disorders: General principles and practical aspects of management","volume":"57","author":"Lee","year":"2018","journal-title":"Transfus. Apher. Sci."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.3324\/haematol.2016.160754","article-title":"Bleeding risk of surgery and its prevention in patients with inherited platelet disorders. The Surgery in Platelet disorders And Therapeutic Approach (SPATA) study","volume":"102","author":"Orsini","year":"2017","journal-title":"Haematologica"}],"container-title":["Biomolecules"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2218-273X\/15\/11\/1528\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T05:27:14Z","timestamp":1761974834000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2218-273X\/15\/11\/1528"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,30]]},"references-count":75,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,11]]}},"alternative-id":["biom15111528"],"URL":"https:\/\/doi.org\/10.3390\/biom15111528","relation":{},"ISSN":["2218-273X"],"issn-type":[{"value":"2218-273X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,30]]}}}