Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection
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DOI: 10.1038/hgv.2016.45
Abstract: Cabezas syndrome is a syndromic form of X-linked intellectual disability primarily characterized by a short stature, hypogonadism and abnormal gait, with other variable features resulting from mutations in the CUL4B gene. Here, we report a… read more here.
Keywords: mutation; genome first; cabezas syndrome; genome ... See more keywords