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...

Fuld beskrivelse

Saved in:
Bibliografiske detaljer
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
Format: Artigo
Sprog:engelsk
Udgivet: 2018
Online adgang:https://doi.org/10.1002/ajmg.a.38699
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Internet

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

Lignende værker