Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia–Gibbs syndrome

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 (I...

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Gepubliceerd in:Hum Mutat
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2021
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8115934/
https://ncbi.nlm.nih.gov/pubmed/33644933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24190
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