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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Main Authors:	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
格式:	Artigo
语言:	英语
出版:	2018
在线阅读:	https://doi.org/10.1002/ajmg.a.38699
标签:	添加标签没有标签, 成为第一个标记此记录!

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