A Novel Variant and a Missense Variant Identified in the DKC1 Gene in Three Chinese Familieswith Dyskeratosis Congenita

PURPOSE: Dyskeratosis congenita (DC) is an inherited telomere biology disorder characterized clinically by mucocutaneous triad of reticulate hyperpigmentation, nail changes and oral leukoplakia. Bone marrow failure, pulmonary fibrosis and malignancies are the mainly life-threatening causes. There ar...

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Detalles Bibliográficos
Autores principales: Yuan, Chunyu, Deng, Dongmei, Yang, Jianqiu, Liu, Simeng, Qian, Qihong, Chen, Min, Zhou, Shengru, Li, Yujiang, Li, Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2022
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9469802/
https://www.ncbi.nlm.nih.gov/pubmed/36111181
http://dx.doi.org/10.2147/CCID.S371794

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9469802/
https://www.ncbi.nlm.nih.gov/pubmed/36111181
http://dx.doi.org/10.2147/CCID.S371794

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