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

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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Bibliographic Details
Main Authors: Kocheva SA, Gjorgjievska M, Martinova K, Antevska-Trajkova Z, Jovanovska A, Plaseska-Karanfilska D
Format: Article
Language:English
Published: Sciendo 2022-06-01
Series:Balkan Journal of Medical Genetics
Subjects:
tinf2 gene mutation
aplastic anemia
dc
Online Access:https://doi.org/10.2478/bjmg-2021-0027

Internet

https://doi.org/10.2478/bjmg-2021-0027

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