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Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay
Li, Niu, Xu, Yufei, Li, Guoqiang, Yu, Tingting, Yao, Ru-en, Wang, Xiumin, Wang, JianVolume:
96
Language:
english
Journal:
Medicine
DOI:
10.1097/md.0000000000006914
Date:
May, 2017
File:
PDF, 423 KB
english, 2017