Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria

Telomere biology disorders (TBD) result from premature telomere shortening due to pathogenic germline variants in telomere maintenance-associated genes. In adults, TBD are characterized by mono/oligosymptomatic clinical manifestations (cryptic TBD) contributing to severe underdiagnosis. We present a...

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Detalles Bibliográficos
Autores principales: Tometten, Mareike, Kirschner, Martin, Meyer, Robert, Begemann, Matthias, Halfmeyer, Insa, Vieri, Margherita, Kricheldorf, Kim, Maurer, Angela, Platzbecker, Uwe, Radsak, Markus, Schafhausen, Philippe, Corbacioglu, Selim, Höchsmann, Britta, Matthias Wilk, C., Hinze, Claas, Chromik, Jörg, Heuser, Michael, Kreuter, Michael, Koschmieder, Steffen, Panse, Jens, Isfort, Susanne, Kurth, Ingo, Brümmendorf, Tim H., Beier, Fabian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10121438/
https://www.ncbi.nlm.nih.gov/pubmed/37096215
http://dx.doi.org/10.1097/HS9.0000000000000874

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