A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome

Hoyeraal-Hreidarsson syndrome (HHS) is the most severe form of dyskeratosis congenita (DC) and is caused by mutations in genes involved in telomere maintenance. Here, we identified male siblings from a family with HHS carrying a hemizygous mutation (c.1345C > G, p.R449G), located in the C-termina...

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Detalles Bibliográficos
Autores principales: Chu, Chia-Mei, Yu, Hsin-Hui, Kao, Tsai-Ling, Chen, Yi-Hsuan, Lu, Hsuan-Hsuan, Wu, En-Ting, Yang, Yun-Li, Lin, Chin-Hsien, Lin, Shin-Yu, Tsai, Meng-Ju Melody, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Chen, Wen-Pin, Lee, Ni-Chung, Tseng, Chi-Kang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9617742/
https://www.ncbi.nlm.nih.gov/pubmed/36309505
http://dx.doi.org/10.1038/s41525-022-00335-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9617742/
https://www.ncbi.nlm.nih.gov/pubmed/36309505
http://dx.doi.org/10.1038/s41525-022-00335-8

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