A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome
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DOI: 10.1101/mcs.a002410
Abstract: Two sisters (ages 16 yr and 15 yr) have been followed by our clinical genetics team for several years. Both girls have severe intellectual disability, hypotonia, seizures, and distinctive craniofacial features. The parents are healthy… read more here.
Keywords: bainbridge ropers; nonsense mutation; ropers syndrome; mutation asxl3 ... See more keywords