The phenotypic spectrum of Xia‐Gibbs syndrome

The phenotypic spectrum of Xia‐Gibbs syndrome

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...

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Bibliográfalaš dieđut
Váldodahkkit: Yunyun Jiang, Michael F. Wangler, Amy L. McGuire, James R. Lupski, Jennifer E. Posey, Michael M. Khayat, David R. Murdock, Luis Sánchez‐Pulido, Chris P. Ponting, Fan Xia, Jill V. Hunter, Qingchang Meng, Mullai Murugan, Richard A. Gibbs
Materiálatiipa: Artigo
Giella:eaŋgalasgiella
Almmustuhtton: 2018
Liŋkkat:https://doi.org/10.1002/ajmg.a.38699
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https://doi.org/10.1002/ajmg.a.38699

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