Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient: A case report

BACKGROUND: Xia–Gibbs syndrome (XGS, OMIM: 615829), caused by mutations within the AT-Hook DNA-binding motif-containing protein 1 (AHDC1) gene (OMIM: 615790), located on the short arm of chromosome 1 within the cytogenetic band 1p36.11, contains five noncoding 5 exons, a single 4.9-kb coding exon, a...

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Detalles Bibliográficos
Autores principales: Lin, Shuang-Zhu, Xie, Hong-Yan, Qu, Yan-Lai, Gao, Wen, Wang, Wan-Qi, Li, Jia-Yi, Feng, Xiao-Chun, Jin, Chun-Quan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9353910/
https://www.ncbi.nlm.nih.gov/pubmed/36157999
http://dx.doi.org/10.12998/wjcc.v10.i21.7517

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9353910/
https://www.ncbi.nlm.nih.gov/pubmed/36157999
http://dx.doi.org/10.12998/wjcc.v10.i21.7517

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