Article
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Human mutation - 1 May 2021
Khayat Michael M, Li He, Chander Varuna, Hu Jianhong, Hansen Adam W, Li Shoudong, Traynelis Josh, Shen Hua, Weissenberger George, Stossi Fabio, Johnson Hannah L, Lupski James R, Posey Jennifer E, Sabo Aniko, Meng Qingchang, Murdock David R, Wangler Michael, Gibbs Richard A
Abstract excerpt
Xia-Gibbs syndrome (XGS) is a rare Mendelian disease typically caused by de novo stop-gain or frameshift mutations in the AT-hook DNA binding motif containing 1 (AHDC1) gene. Patients usually present in early infancy with hypotonia and developmental delay and later exhibit intellectual disability (ID). The overall presentation is variable, however, and the emerging clinical picture is still evolving. A detailed...
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