{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:45:48Z","timestamp":1791229548366,"version":"4.1.0"},"reference-count":91,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T00:00:00Z","timestamp":1646956800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Dyskeratosis congenital (DC) is the first genetic syndrome described among telomeropathies. Its classical phenotype is characterized by the mucocutaneous triad of reticulated pigmentation of skin lace, nail dystrophy and oral leukoplakia. The clinical presentation, however, is heterogeneous and serious clinical complications include bone marrow failure, hematological and solid tumors. It may also involve immunodeficiencies, dental, pulmonary and liver disorders, and other minor complication. Dyskeratosis congenita shows marked genetic heterogeneity, as at least 14 genes are responsible for the shortening of telomeres characteristic of this disease. This review discusses clinical characteristics, molecular genetics, disease evolution, available therapeutic options and differential diagnosis of dyskeratosis congenita to provide an interdisciplinary and personalized medical assessment that includes family genetic counseling.<\/jats:p>","DOI":"10.3390\/genes13030496","type":"journal-article","created":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T12:58:36Z","timestamp":1647003516000},"page":"496","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita"],"prefix":"10.3390","volume":"13","author":[{"given":"Michele","family":"Callea","sequence":"first","affiliation":[{"name":"Pediatric Dentistry and Special Dental Care Unit, Meyer Children\u2019s University Hospital, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Martinelli","sequence":"additional","affiliation":[{"name":"Unit of Metabolism, Bambino Ges\u00f9 Children\u2019s Research Hospital, Piazza Sant\u2019Onofrio, 4, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Cammarata-Scalisi","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda, Hospital Regional de Antofagasta, Antofagasta 1240835, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3551-9286","authenticated-orcid":false,"given":"Chiara","family":"Grimaldi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Meyer Children\u2019s Hospital, Viale Gaetano Pieraccini 24, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7433-0294","authenticated-orcid":false,"given":"Houweyda","family":"Jilani","sequence":"additional","affiliation":[{"name":"Genetic Department, Mongi Slim Hospital, Marsa 2046, Tunisia"},{"name":"Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis 1068, Tunisia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piercesare","family":"Grimaldi","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, University of Torino, 10125 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1246-4166","authenticated-orcid":false,"given":"Colin Eric","family":"Willoughby","sequence":"additional","affiliation":[{"name":"Genomic Medicine, Biomedical Sciences Research Institute, Ulster University, Coleraine Campus, Coleraine BT52 1SA, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5323-3620","authenticated-orcid":false,"given":"Antonino","family":"Morabito","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Meyer Children\u2019s Hospital, Viale Gaetano Pieraccini 24, 50139 Florence, Italy"},{"name":"Department of Neurofarba, University of Florence, Viale Pieraccini 6, 50121 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,3,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/ng0598-32","article-title":"X-Linked Dyskeratosis Congenita Is Caused by Mutations in a Highly Conserved Gene with Putative Nucleolar Functions","volume":"19","author":"Heiss","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_2","first-page":"219","article-title":"Atrophia Cutis Reticularis Cum Pigmentatione Dystrophia Unguium et Leukoplakia Oris","volume":"5","author":"Zinsser","year":"1906","journal-title":"Inkonographia Dermatol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1182\/asheducation-2011.1.480","article-title":"Dyskeratosis Congenita","volume":"2011","author":"Dokal","year":"2011","journal-title":"Hematol. Am. Soc. Hematol. Educ. Program"},{"key":"ref_4","first-page":"157","article-title":"The Diagnosis and Treatment of Dyskeratosis Congenita: A Review","volume":"5","year":"2014","journal-title":"J. Blood Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1111\/j.1468-3083.2007.02530.x","article-title":"Late Manifestation of Dyskeratosis Congenita Presenting as Chronic Dermal Ulcer in a 37-Year-Old Man","volume":"22","author":"Reimann","year":"2008","journal-title":"J. Eur. Acad. Dermatol. Venerol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1111\/pde.14316","article-title":"Chronic Sole Ulcer in a Child with Dyskeratosis Congenita: An Atypical Wound Successfully Treated with Punch Grafting","volume":"37","year":"2020","journal-title":"Pediatr. Dermatol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1111\/j.1600-0609.1984.tb02191.x","article-title":"Bone Marrow Failure in Dyskeratosis Congenita","volume":"32","author":"Hanada","year":"2009","journal-title":"Scand. J. Haematol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"77","DOI":"10.35839\/repis.4.2.606","article-title":"Aspectos Cl\u00ednicos, Etiol\u00f3gicos y Terap\u00e9uticos de La Disqueratosis Cong\u00e9nita","volume":"4","author":"Perona","year":"2020","journal-title":"Revista Peruana de Investigaci\u00f3n en Salud"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1016\/0030-4220(74)90139-X","article-title":"Dyskeratosis Congenita with Associated Periodontal Disease","volume":"37","author":"Wald","year":"1974","journal-title":"Oral Surg. Oral Med. Oral Pathol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1111\/j.1600-0714.1992.tb01011.x","article-title":"Oral-Dental Findings in Dyskeratosis Congenita","volume":"21","author":"Yavuzyilmaz","year":"1992","journal-title":"J. Oral Pathol. Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1111\/j.1601-0825.2007.01394.x","article-title":"Oral and Dental Phenotype of Dyskeratosis Congenita","volume":"14","author":"Atkinson","year":"2008","journal-title":"Oral Dis."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"7552","DOI":"10.1073\/pnas.0701009104","article-title":"Adult-Onset Pulmonary Fibrosis Caused by Mutations in Telomerase","volume":"104","author":"Tsakiri","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Calado, R.T., Regal, J.A., Kleiner, D.E., Schrump, D.S., Peterson, N.R., Pons, V., Chanock, S.J., Lansdorp, P.M., and Young, N.S. (2009). A Spectrum of Severe Familial Liver Disorders Associate with Telomerase Mutations. PLoS ONE, 4.","DOI":"10.1371\/journal.pone.0007926"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1182\/asheducation-2007.1.29","article-title":"Diagnosis, Genetics, and Management of Inherited Bone Marrow Failure Syndromes","volume":"2007","author":"Alter","year":"2007","journal-title":"Hematol. Am. Soc. Hematol. Educ. Program"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"e242459","DOI":"10.1136\/bcr-2021-242459","article-title":"Dyskeratosis Congenita and Squamous Cell Carcinoma of the Mandibular Alveolar Ridge","volume":"14","author":"Manfuso","year":"2021","journal-title":"BMJ Case Rep."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1046\/j.1365-2141.1999.01690.x","article-title":"Unexplained Aplastic Anaemia, Immunodeficiency, and Cerebellar Hypoplasia (Hoyeraal-Hreidarsson Syndrome) Due to Mutations in the Dyskeratosis Congenita Gene, DKC1: Hoyeraal-Hreidarsson Syndrome Is Due to Mutations in DKC1","volume":"107","author":"Knight","year":"1999","journal-title":"Br. J. Haematol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"2680","DOI":"10.1182\/blood-2005-07-2622","article-title":"Mutations in Dyskeratosis Congenita: Their Impact on Telomere Length and the Diversity of Clinical Presentation","volume":"107","author":"Vulliamy","year":"2006","journal-title":"Blood"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"3594","DOI":"10.1182\/blood-2008-05-153445","article-title":"TINF2 Mutations Result in Very Short Telomeres: Analysis of a Large Cohort of Patients with Dyskeratosis Congenita and Related Bone Marrow Failure Syndromes","volume":"112","author":"Walne","year":"2008","journal-title":"Blood"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.psym.2011.09.003","article-title":"Neuropsychiatric Conditions Among Patients with Dyskeratosis Congenita: A Link with Telomere Biology?","volume":"53","author":"Rackley","year":"2012","journal-title":"Psychosomatics"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1002\/da.20749","article-title":"Telomere Length of Patients with Major Depression Is Shortened but Independent from Therapy and Severity of the Disease","volume":"27","author":"Hartmann","year":"2010","journal-title":"Depress. Anxiety"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.biopsych.2006.02.004","article-title":"Telomere Shortening and Mood Disorders: Preliminary Support for a Chronic Stress Model of Accelerated Aging","volume":"60","author":"Simon","year":"2006","journal-title":"Biol. Psychiatry"},{"key":"ref_22","first-page":"244","article-title":"Short Telomeres in Patients with Chronic Schizophrenia Who Show a Poor Response to Treatment","volume":"33","author":"Yu","year":"2008","journal-title":"J. Psychiatry Neurosci."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/j.ophtha.2009.08.023","article-title":"Ocular and Orbital Manifestations of the Inherited Bone Marrow Failure Syndromes: Fanconi Anemia and Dyskeratosis Congenita","volume":"117","author":"Tsilou","year":"2010","journal-title":"Ophthalmology"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1097\/GIM.0b013e3181f415b5","article-title":"The Genetics and Clinical Manifestations of Telomere Biology Disorders","volume":"12","author":"Savage","year":"2010","journal-title":"Genet. Med."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1046\/j.1365-4362.2003.01699_2.x","article-title":"Dyskeratosis Congenita with Esophageal and Anal Stricture","volume":"42","author":"Arca","year":"2003","journal-title":"Int. J. Dermatol."},{"key":"ref_26","first-page":"297","article-title":"A Case of Dyskeratosis Congenita Associated with Hypothyroidism and Hypogonadism","volume":"15","author":"Kutbay","year":"2016","journal-title":"Hormones"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1001\/archpedi.1973.02110190337020","article-title":"Dyskeratosis Congenita With Pancytopenia: Another Constitutional Anemia","volume":"126","author":"Inoue","year":"1973","journal-title":"Am. J. Dis. Child."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1182\/blood-2007-10-120907","article-title":"Complex Inheritance Pattern of Dyskeratosis Congenita in Two Families with 2 Different Mutations in the Telomerase Reverse Transcriptase Gene","volume":"111","author":"Du","year":"2008","journal-title":"Blood"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/0002-9343(86)90730-8","article-title":"Avascular Necrosis of Bone in Dyskeratosis Congenita","volume":"80","author":"Kalb","year":"1986","journal-title":"Am. J. Med."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1186\/s13023-018-0864-9","article-title":"Diagnostics of Rare Disorders: Whole-Exome Sequencing Deciphering Locus Heterogeneity in Telomere Biology Disorders","volume":"13","author":"Trotta","year":"2018","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"353","DOI":"10.3324\/haematol.2011.055269","article-title":"Telomere Length Is Associated with Disease Severity and Declines with Age in Dyskeratosis Congenita","volume":"97","author":"Alter","year":"2012","journal-title":"Haematologica"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"e02079","DOI":"10.1002\/brb3.2079","article-title":"Brain Imaging Features of Children with Hoyeraal-Hreidarsson Syndrome","volume":"11","author":"Zhang","year":"2021","journal-title":"Brain Behav."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1053\/j.seminhematol.2013.09.002","article-title":"Genomic Characterization of the Inherited Bone Marrow Failure Syndromes","volume":"50","author":"Khincha","year":"2013","journal-title":"Semin. Hematol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/j.mrfmmm.2011.06.008","article-title":"Dyskeratosis Congenita as a Disorder of Telomere Maintenance","volume":"730","author":"Nelson","year":"2012","journal-title":"Mutat. Res. Fundam. Mol. Mech. Mutagenesis"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1038\/ng.1084","article-title":"Mutations in CTC1, Encoding Conserved Telomere Maintenance Component 1, Cause Coats Plus","volume":"44","author":"Anderson","year":"2012","journal-title":"Nat. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1007\/s00439-013-1265-8","article-title":"Germline Mutations of Regulator of Telomere Elongation Helicase 1, RTEL1, in Dyskeratosis Congenita","volume":"132","author":"Ballew","year":"2013","journal-title":"Hum. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.ajhg.2013.02.001","article-title":"Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita","volume":"92","author":"Walne","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"4198","DOI":"10.1182\/blood-2006-12-062851","article-title":"Telomerase Reverse-Transcriptase Homozygous Mutations in Autosomal Recessive Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome","volume":"110","author":"Marrone","year":"2007","journal-title":"Blood"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.ajhg.2007.10.004","article-title":"TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita","volume":"82","author":"Savage","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"2090","DOI":"10.1101\/gad.248567.114","article-title":"Hoyeraal-Hreidarsson Syndrome Caused by a Germline Mutation in the TEL Patch of the Telomere Protein TPP1","volume":"28","author":"Kocak","year":"2014","journal-title":"Genes Dev."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1136\/jmedgenet-2015-103292","article-title":"Bone Marrow Failure and Developmental Delay Caused by Mutations in Poly(A)-Specific Ribonuclease (PARN)","volume":"52","author":"Dhanraj","year":"2015","journal-title":"J. Med. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1136\/jmg.29.9.673","article-title":"Bilateral Retinopathy, Aplastic Anaemia, and Central Nervous System Abnormalities: A New Syndrome?","volume":"29","author":"Revesz","year":"1992","journal-title":"J. Med. Genet."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1186\/s13023-020-01553-y","article-title":"Revesz Syndrome Revisited","volume":"15","author":"Karremann","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1111\/pde.14366","article-title":"Coats plus Syndrome (Cerebroretinal Microangiopathy with Calcifications and Cysts-1): A Case Report","volume":"38","author":"Morgado","year":"2021","journal-title":"Pediatr. Dermatol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/eye.1988.56","article-title":"A Familial Syndrome with Coats\u2019 Reaction Retinal Angiomas, Hair and Nail Defects and Intracranial Calcification","volume":"2","author":"Tolmie","year":"1988","journal-title":"Eye"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.jpeds.2020.09.038","article-title":"Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders","volume":"230","author":"Himes","year":"2021","journal-title":"J. Pediatr."},{"key":"ref_47","doi-asserted-by":"crossref","unstructured":"Rodriguez-Centeno, J., Perona, R., and Sastre, L. (2019). Dyskerin Mutations Present in Dyskeratosis Congenita Patients Increase Oxidative Stress and DNA Damage Signalling in Dictyostelium Discoideum. Cells, 8.","DOI":"10.3390\/cells8111406"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"5458","DOI":"10.1182\/blood-2011-04-351460","article-title":"A Zebrafish Model of Dyskeratosis Congenita Reveals Hematopoietic Stem Cell Formation Failure Resulting from Ribosomal Protein-Mediated P53 Stabilization","volume":"118","author":"Pereboom","year":"2011","journal-title":"Blood"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1731","DOI":"10.1101\/gad.1695808","article-title":"POT of Gold: Modeling Dyskeratosis Congenita in the Mouse: Figure 1","volume":"22","author":"Autexier","year":"2008","journal-title":"Genes Dev."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"7049","DOI":"10.1073\/pnas.86.18.7049","article-title":"Conservation of the Human Telomere Sequence (TTAGGG)n among Vertebrates","volume":"86","author":"Meyne","year":"1989","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/0014-4827(61)90192-6","article-title":"The Serial Cultivation of Human Diploid Cell Strains","volume":"25","author":"Hayflick","year":"1961","journal-title":"Exp. Cell Res."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1016\/S0959-8049(97)00062-2","article-title":"A Survey of Telomerase Activity in Human Cancer","volume":"33","author":"Shay","year":"1997","journal-title":"Eur. J. Cancer"},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Khincha, P., Dagnall, C., Hicks, B., Jones, K., Aviv, A., Kimura, M., Katki, H., Aubert, G., Giri, N., and Alter, B. (2017). Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives. Int. J. Mol. Sci., 18.","DOI":"10.3390\/ijms18081765"},{"key":"ref_54","first-page":"943","article-title":"Dyskeratosis congenita: A literature review","volume":"18","author":"AlSabbagh","year":"2020","journal-title":"J. Dtsch. Dermatol. Ges."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1432","DOI":"10.1002\/ajmg.a.38706","article-title":"Complex Phenotype of Dyskeratosis Congenita and Mood Dysregulation with Novel Homozygous RTEL1 and TPH1 Variants","volume":"176","author":"Ungar","year":"2018","journal-title":"Am. J. Med. Genet."},{"key":"ref_56","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J., Mirzaa, G., and Amemiya, A. (1993). Dyskeratosis Congenita. GeneReviews\u00ae, University of Washington."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1038\/35096585","article-title":"The RNA Component of Telomerase Is Mutated in Autosomal Dominant Dyskeratosis Congenita","volume":"413","author":"Vulliamy","year":"2001","journal-title":"Nature"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1093\/hmg\/ddm111","article-title":"Genetic Heterogeneity in Autosomal Recessive Dyskeratosis Congenita with One Subtype Due to Mutations in the Telomerase-Associated Protein NOP10","volume":"16","author":"Walne","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1002\/pbc.22061","article-title":"Dyskeratosis Congenita: The First NIH Clinical Research Workshop: Dyskeratosis Congenita Workshop Report","volume":"53","author":"Savage","year":"2009","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1038\/sj.onc.1205083","article-title":"Telomerase in the Human Organism","volume":"21","author":"Collins","year":"2002","journal-title":"Oncogene"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1080\/15476286.2015.1094596","article-title":"The Molecular Genetics of the Telomere Biology Disorders","volume":"13","author":"Bertuch","year":"2016","journal-title":"RNA Biol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1007\/s12185-010-0695-5","article-title":"Recent Progress in Dyskeratosis Congenita","volume":"92","author":"Nishio","year":"2010","journal-title":"Int. J. Hematol."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1261\/rna.078953.121","article-title":"Dyskerin: An Essential Pseudouridine Synthase with Multifaceted Roles in Ribosome Biogenesis, Splicing, and Telomere Maintenance","volume":"27","author":"Garus","year":"2021","journal-title":"RNA"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1016\/j.redox.2017.11.003","article-title":"A Functional Connection between Dyskerin and Energy Metabolism","volume":"14","author":"Angrisani","year":"2018","journal-title":"Redox Biol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1016\/j.molcel.2012.09.006","article-title":"Mitochondria and Telomeres: The Promiscuous Roles of TIN2","volume":"47","author":"Sullivan","year":"2012","journal-title":"Mol. Cell"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1016\/j.molcel.2012.07.002","article-title":"Mitochondrial Localization of Telomeric Protein TIN2 Links Telomere Regulation to Metabolic Control","volume":"47","author":"Chen","year":"2012","journal-title":"Mol. Cell"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"118845","DOI":"10.1016\/j.bbamcr.2020.118845","article-title":"Acute Depletion of Telomerase Components DKC1 and NOP10 Induces Oxidative Stress and Disrupts Ribosomal Biogenesis via NPM1 and Activation of the P53 Pathway","volume":"1867","year":"2020","journal-title":"Biochim. Biophys. Acta Mol. Cell Res."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1016\/0190-9622(92)70039-I","article-title":"Dermatopathia Pigmentosa Reticularis: A Report of a Family Demonstrating Autosomal Dominant Inheritance","volume":"26","author":"Heimer","year":"1992","journal-title":"J. Am. Acad. Dermatol."},{"key":"ref_69","first-page":"257","article-title":"Famili\u00e4re, Infantile Pernicios\u00e4hnliche An\u00e4mie (Pernizi\u00f6ses Blutbild Und Konstitution)","volume":"117","author":"Fanconi","year":"1927","journal-title":"Jahrbuch Kinderheilk"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1111\/bjd.15575","article-title":"Updated Review of Genetic Reticulate Pigmentary Disorders","volume":"177","author":"Zhang","year":"2017","journal-title":"Br. J. Dermatol."},{"key":"ref_71","first-page":"754","article-title":"Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs: Probably a Syndrome Entity","volume":"88","author":"Bloom","year":"1954","journal-title":"Am. J. Dis. Child."},{"key":"ref_72","first-page":"159","article-title":"\u00dcber Cataracten in Verbindung Mit Einer Eigenth\u00fcmlichen Hautdegeneration","volume":"14","author":"Rothmund","year":"1868","journal-title":"Archiv f\u00fcr Ophthalmologie"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1016\/S0022-3476(65)80372-9","article-title":"Epidermolysis Bullosa Hereditaria Simplex","volume":"67","author":"Passarge","year":"1965","journal-title":"J. Pediatr."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1111\/j.1365-2133.1954.tb12598.x","article-title":"Congenital poikiloderma with traumatic bulla fokmation and progressive cutaneous atrophy","volume":"66","author":"Kindler","year":"1954","journal-title":"Br. J. Dermatol."},{"key":"ref_75","first-page":"131","article-title":"Immune Deficient Poikiloderma: A New Genodermatosis","volume":"49","author":"Clericuzio","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1136\/jmg.25.12.843","article-title":"Dyskeratosis Congenita","volume":"25","author":"Davidson","year":"1988","journal-title":"J. Med. Genet."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1111\/j.1651-2227.1981.tb05740.x","article-title":"A new chromosomal instability disorder: The Nijmegen breakage syndrome","volume":"70","author":"Weemaes","year":"1981","journal-title":"Acta Paediatr."},{"key":"ref_78","unstructured":"Seckel, H. (1959). Bird-Headed Dwarfs, S. Karger AG. Studies in Developmental Anthropology Including Human Proportions."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1055\/s-0036-1578799","article-title":"Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure","volume":"47","author":"Dehmel","year":"2016","journal-title":"Neuropediatrics"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"3228","DOI":"10.1038\/ncomms4228","article-title":"A Non-Canonical Function of Telomerase RNA in the Regulation of Developmental Myelopoiesis in Zebrafish","volume":"5","author":"Anchelin","year":"2014","journal-title":"Nat. Commun."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1046\/j.1365-2141.2000.02109.x","article-title":"Dyskeratosis Congenita in All Its Forms: Review","volume":"110","author":"Dokal","year":"2000","journal-title":"Br. J. Haematol."},{"key":"ref_82","doi-asserted-by":"crossref","unstructured":"Vieri, M., Kirschner, M., Tometten, M., Abels, A., Rolles, B., Isfort, S., Panse, J., Br\u00fcmmendorf, T.H., and Beier, F. (2020). Comparable Effects of the Androgen Derivatives Danazol, Oxymetholone and Nandrolone on Telomerase Activity in Human Primary Hematopoietic Cells from Patients with Dyskeratosis Congenita. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21197196"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"e239","DOI":"10.1016\/j.oooo.2017.08.001","article-title":"Malignant Transformation of Oral Leukoplakia in a Patient with Dyskeratosis Congenita","volume":"124","author":"Bongiorno","year":"2017","journal-title":"Oral Surg. Oral Med. Oral Pathol. Oral Radiol."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1111\/j.1529-8019.2012.01527.x","article-title":"Systemic Retinoids in the Management of Ichthyoses and Related Skin Types: Management of Ichthyoses and Related Skin Types","volume":"26","author":"DiGiovanna","year":"2013","journal-title":"Dermatol. Ther."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"S1","DOI":"10.12968\/jowc.2019.28.Sup3a.S1","article-title":"Implementing TIMERS: The Race against Hard-to-Heal Wounds","volume":"28","author":"Atkin","year":"2019","journal-title":"J. Wound Care"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1007\/s00198-020-05758-6","article-title":"Multiple Bilateral Hip Fractures in a Patient with Dyskeratosis Congenita Caused by a Novel Mutation in the PARN Gene","volume":"32","author":"Belaya","year":"2021","journal-title":"Osteoporos. Int."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1002\/jcb.24301","article-title":"The Effects of Zoledronic Acid in the Bone and Vasculature Support of Hematopoietic Stem Cell Niches","volume":"114","author":"Soki","year":"2013","journal-title":"J. Cell. Biochem."},{"key":"ref_88","doi-asserted-by":"crossref","unstructured":"Iarriccio, L., Mangu\u00e1n-Garc\u00eda, C., Pintado-Berninches, L., Manche\u00f1o, J.M., Molina, A., Perona, R., and Sastre, L. (2015). GSE4, a Small Dyskerin- and GSE24.2-Related Peptide, Induces Telomerase Activity, Cell Proliferation and Reduces DNA Damage, Oxidative Stress and Cell Senescence in Dyskerin Mutant Cells. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0142980"},{"key":"ref_89","doi-asserted-by":"crossref","unstructured":"Manguan-Garcia, C., Pintado-Berninches, L., Carrillo, J., Machado-Pinilla, R., Sastre, L., P\u00e9rez-Quilis, C., Esmoris, I., Gimeno, A., Garc\u00eda-Gim\u00e9nez, J.L., and Pallard\u00f3, F.V. (2014). Expression of the Genetic Suppressor Element 24.2 (GSE24.2) Decreases DNA Damage and Oxidative Stress in X-Linked Dyskeratosis Congenita Cells. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0101424"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"2606","DOI":"10.1182\/blood-2007-04-083261","article-title":"A Dyskerin Motif Reactivates Telomerase Activity in X-Linked Dyskeratosis Congenita and in Telomerase-Deficient Human Cells","volume":"111","author":"Sastre","year":"2008","journal-title":"Blood"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"1770","DOI":"10.1182\/blood-2015-08-667485","article-title":"Telomerase Gene Therapy Rescues Telomere Length, Bone Marrow Aplasia, and Survival in Mice with Aplastic Anemia","volume":"127","author":"Povedano","year":"2016","journal-title":"Blood"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/3\/496\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T22:34:51Z","timestamp":1760135691000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/3\/496"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,11]]},"references-count":91,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,3]]}},"alternative-id":["genes13030496"],"URL":"https:\/\/doi.org\/10.3390\/genes13030496","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,11]]}}}