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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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Dades bibliogràfiques
Publicat a:Sci Rep
Autors principals: 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
Idioma:Inglês
Publicat: Nature Publishing Group 2017
Matèries:
Accés en línia: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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