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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:İngilizce
Baskı/Yayın Bilgisi: 2018
Online Erişim:https://doi.org/10.1002/ajmg.a.38699
Etiketler: Etiketle
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Internet

https://doi.org/10.1002/ajmg.a.38699

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