Article
Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome.
American journal of medical genetics. Part A - 1 May 2020
Lugo Michael, Wong Zoë C, Billington Charles J, Parrish Phoebe C R, Muldoon Glennis, Liu Delong, Pober Barbara R, Kozel Beth A
Abstract excerpt
Williams-Beuren syndrome (WBS) is a multisystem disorder caused by a hemizygous deletion on 7q11.23 encompassing 26-28 genes. An estimated 2-5% of patients have "atypical" deletions, which extend in the centromeric and/or telomeric direction from the WBS critical region. To elucidate clinical differentiators among these deletion types, we evaluated 10 individuals with atypical deletions in our cohort and 17...
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