A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome

Cockayne syndrome is an autosomal recessive disorder principally characterized by postnatal growth failure and progressive neurological dysfunction, due primarily to mutations in ERCC6 and ERCC8. Here, we report our diagnostic experience for two patients in a Chinese family suspected on clinical gro...

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Detalles Bibliográficos
Autores principales: Xie, Hua, Li, Xiaoyan, Peng, Jiping, Chen, Qian, Gao, ZhiJie, Song, Xiaozhen, Li, WeiYu, Xiao, Jianqiu, Li, Caihua, Zhang, Ting, Gusella, James F., Zhong, Jianmin, Chen, Xiaoli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363064/
https://www.ncbi.nlm.nih.gov/pubmed/28333167
http://dx.doi.org/10.1038/srep44271

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363064/
https://www.ncbi.nlm.nih.gov/pubmed/28333167
http://dx.doi.org/10.1038/srep44271

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