Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract.
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DOI: 10.18240/ijo.2018.10.01
Abstract: AIM To summarize the phenotypes and identify the underlying genetic cause of the CRYBB1 and CRYBB2 gene responsible for congenital cataract in two Chinese families. METHODS Detailed family histories and clinical data were collected from… read more here.
Keywords: congenital cataract; mutation; crybb1 crybb2; family ... See more keywords