Article
The phenotypic spectrum of Xia-Gibbs syndrome.
American journal of medical genetics. Part A - 1 Jun 2018
Jiang Yunyun, Wangler Michael F, McGuire Amy L, Lupski James R, Posey Jennifer E, Khayat Michael M, Murdock David R, Sanchez-Pulido Luis, Ponting Chris P, Xia Fan, Hunter Jill V, Meng Qingchang, Murugan Mullai, Gibbs Richard A
Abstract excerpt
Xia-Gibbs syndrome (XGS: OMIM # 615829) results from de novo truncating mutations within the AT-Hook DNA Binding Motif Containing 1 gene (AHDC1). To further define the phenotypic and molecular spectrum of this disorder, we established an XGS Registry and recruited patients from a worldwide pool of approximately 60 probands. Additional de novo truncating mutations were observed among 25 individuals, extending both...
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