Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

BACKGROUND: The telomere biology disorders (TBDs) include a range of multisystem diseases characterized by mucocutaneous symptoms and bone marrow failure. In dyskeratosis congenita (DKC), the clinical features of TBDs stem from the depletion of crucial stem cell populations in highly proliferative t...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Trotta, Luca, Norberg, Anna, Taskinen, Mervi, Béziat, Vivien, Degerman, Sofie, Wartiovaara-Kautto, Ulla, Välimaa, Hannamari, Jahnukainen, Kirsi, Casanova, Jean-Laurent, Seppänen, Mikko, Saarela, Janna, Koskenvuo, Minna, Martelius, Timi
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6097299/
https://ncbi.nlm.nih.gov/pubmed/30115091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0864-9
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