Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity.
Department of Laboratory Medicine and Pathobiology.
Miles D
MD
Thompson
Department of Pediatrics (Genetics), University of Toronto, Canada.
David E
DE
Cole
D019066:Facies; D018740:Genetic Heterogeneity; D006548:Hernia, Diaphragmatic; D006801:Humans; D017880:Limb Deformities, Congenital; D009154:Mutation