title: Clinical phenotypes of MAGEL2 mutations and deletions.
authors.forename: Karin
authors.initials: K
authors.lastname: Buiting
authors.forename: Nataliya
authors.initials: N
authors.lastname: Di Donato
authors.forename: Jasmin
authors.initials: J
authors.lastname: Beygo
authors.forename: Susanne
authors.initials: S
authors.lastname: Bens
authors.forename: Maja
authors.initials: M
authors.lastname: von der Hagen
authors.forename: Karl
authors.initials: K
authors.lastname: Hackmann
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany. bernhard.horsthemke@uni-due.de.
authors.forename: Bernhard
authors.initials: B
authors.lastname: Horsthemke
mesh_terms: D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011401:Promoter Regions, Genetic; D011506:Proteins / Q000235:genetics*; D047908:Intracellular Signaling Peptides and Proteins; D064267:Intrinsically Disordered Proteins
chemical_list: D011506:Proteins; C510822:MAGEL2 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D064267:Intrinsically Disordered Proteins