Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad

BACKGROUND: Dyskeratosis congenita (DC) is a rare inheritable disorder characterized by bone marrow failure and mucocutaneous triad (reticular skin pigmentation, nail dystrophy, and oral leukoplakia). Dyskeratosis congenita 1 (DKC1) is responsible for 4.6% of the DC with an X-linked inheritance patt...

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Detalles Bibliográficos
Autores principales: Wang, Liqing, Li, Jianwei, Xiong, Qiuhong, Zhou, Yong-An, Li, Ping, Wu, Changxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019361/
https://www.ncbi.nlm.nih.gov/pubmed/35463902
http://dx.doi.org/10.3389/fped.2022.834268

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9019361/
https://www.ncbi.nlm.nih.gov/pubmed/35463902
http://dx.doi.org/10.3389/fped.2022.834268

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