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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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Sciendo
2022-06-01
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| Colecção: | Balkan Journal of Medical Genetics |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.2478/bjmg-2021-0027 |
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