de Novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita

Dyskeratosis congenita (DC) is a clinically and genetically heterogeneous, multisystem inherited syndrome with a very high risk for bone marrow failure (BMF) and cancer predisposition. The classical clinical form of DC is characterized by abnormal skin pigmentation, nail dystrophy, and oral leukopla...

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Detalles Bibliográficos
Autores principales: Kocheva, SA, Gjorgjievska, M, Martinova, K, Antevska-Trajkova, Z, Jovanovska, A, Plaseska-Karanfilska, D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9524180/
https://www.ncbi.nlm.nih.gov/pubmed/36249522
http://dx.doi.org/10.2478/bjmg-2021-0027

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