Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient: A case report
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DOI: 10.12998/wjcc.v10.i21.7517
Abstract: 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… read more here.
Keywords: case report; gene; ahdc1 gene; global developmental ... See more keywords