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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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Bibliografiske detaljer
Udgivet i:Sci Rep
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5363064/
https://ncbi.nlm.nih.gov/pubmed/28333167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep44271
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