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
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DOI: 10.1097/md.0000000000006914
Abstract: Rationale: The CTNNB1 (&bgr;-catenin) gene is well known for its crucial role in cell adhesion and the Wnt-signaling pathway. Previous studies have shown that gain-of-function mutations in the CTNNB1 gene contribute to the occurrence and… read more here.
Keywords: retinal detachment; gene; mutation ctnnb1; ctnnb1 gene ... See more keywords