Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1

Soren L Faergeman, Anders B Bojesen, Maria Rasmussen, Naja Becher, Lotte Andreasen, Brian N Andersen, Emilie Erbs, Dorte L Lildballe, Jens Erik K Nielsen, Monica Zilmer, Trine Bjørg Hammer, Mikkel Ø Andersen, Charlotte Brasch-Andersen, Christina R Fagerberg, Niels O Illum, Mette B Thorup, Pernille A Gregersen