Article
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
European journal of medical genetics - 1 Sept 2021
Faergeman Soren L, Bojesen Anders B, Rasmussen Maria, Becher Naja, Andreasen Lotte, Andersen Brian N, Erbs Emilie, Lildballe Dorte L, Nielsen Jens Erik K, Zilmer Monica, Hammer Trine Bjørg, Andersen Mikkel Ø, Brasch-Andersen Charlotte, Fagerberg Christina R, Illum Niels O, Thorup Mette B, Gregersen Pernille A
Abstract excerpt
Xia-Gibbs syndrome (XGS) is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, obstructive sleep apnoea and mild facial dysmorphism. Heterozygosity for loss-of-function variants in AHDC1, encoding the AT-hook DNA binding motif containing protein 1, were discovered in 2014 as the likely genetic cause of Xia-Gibbs syndrome. We present five patients with...
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