AHDC1 missense mutations in Xia-Gibbs syndrome

AHDC1 missense mutations in Xia-Gibbs syndrome

Summary: Xia-Gibbs syndrome (XGS; MIM: 615829) is a phenotypically heterogeneous neurodevelopmental disorder (NDD) caused by newly arising mutations in the AT-Hook DNA-Binding Motif-Containing 1 (AHDC1) gene that are predicted to lead to truncated AHDC1 protein synthesis. More than 270 individuals h...

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Bibliographic Details
Main Authors: Michael M. Khayat, Jianhong Hu, Yunyun Jiang, He Li, Varuna Chander, Moez Dawood, Adam W. Hansen, Shoudong Li, Jennifer Friedman, Laura Cross, Emilia K. Bijlsma, Claudia A.L. Ruivenkamp, Francis H. Sansbury, Jeffrey W. Innis, Jessica Omark O’Shea, Qingchang Meng, Jill A. Rosenfeld, Kirsty McWalter, Michael F. Wangler, James R. Lupski, Jennifer E. Posey, David Murdock, Richard A. Gibbs
Format: Article
Language:English
Published: Elsevier 2021-10-01
Series:HGG Advances
Subjects:
AHDC1
Xia-Gibbs syndrome
missense mutation
de novo mutation
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247721000300

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http://www.sciencedirect.com/science/article/pii/S2666247721000300

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