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 Andersen, Charlotte Brasch-Andersen, Christina R. Fagerberg, Niels O. Illum, Mette B. Thorup, Pernille A. Gregersen

*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

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Biochemistry, Genetics and Molecular Biology