title: Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome.
authors: Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada.
authors: Ron
authors: R
authors: Agatep
authors: Cheryl
authors: C
authors: Shuman
authors: Leslie
authors: L
authors: Steele
authors: Nicole
authors: N
authors: Parkinson
authors: Rosanna
authors: R
authors: Weksberg
authors: Tracy L
authors: TL
authors: Stockley
mesh_terms: D001145:Arrhythmias, Cardiac / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics*; D005877:Gigantism / Q000235:genetics*; D053673:Glypicans / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D010375:Pedigree
chemical_list: C105937:GPC3 protein, human; D053673:Glypicans
keywords: GPC3; MLPA; Simpson-Golabi-Behmel; c.338-?_1292+?del; mosaicism