The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Michael D FountainEmmelien AtenMegan T ChoJane JuusolaMagdalena A WalkiewiczJoseph W RayFan XiaYaping YangBrett H GrahamCarlos A BacinoLorraine PotockiArie van HaeringenClaudia A L RuivenkampPedro ManciasHope NorthrupMary K KukolichMarjan M WeissConny M A van Ravenswaaij-ArtsInge B MathijssenSebastien LevesqueNaomi MeeksJill Anne RosenfeldDanielle LemkeAda HamoshM E Suzanne LewisSimone RaceLaura L StewartBeverly HayAndrea M LewisRita L GuerreiroJose T BrasMarcia P MartinsGerarda Derksen-LubsenEls PeetersConnie StumpelSander StegmannLevinus A BokGijs W E SantenChristian Patrick SchaafPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
This study provides strong evidence for the pathogenicity of truncating mutations of the paternal allele of MAGEL2, refines the associated clinical phenotypes, and highlights implications for genetic counseling for affected families.Genet Med 19 1, 45-52.