Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review

Por Kou, Yao, Shboul, Mohammad, Wang, Zhihao, Shersheer, Qasem, Lyu, Zhaojie, Liu, Peirong, Zhao, Xiaodong, Tian, Jing
Publicado no Medicine (Baltimore) (2018)