Article
Prenatal diagnosis in CDG1 families: beware of heterogeneity.
European journal of human genetics : EJHG - 1 Jan 2000
Matthijs G, Schollen E, Cassiman J J, Cormier-Daire V, Jaeken J, van Schaftingen E
Abstract excerpt
Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1) is an autosomal recessive, metabolic disorder with severe psychomotor retardation and a high mortality rate in early childhood. Most patients have a deficiency of phosphomannomutase, due to mutations in PMM2, a gene located on chromosome...
Topics
- Congenital Disorders of Glycosylation
- Female
- Genetic Heterogeneity
- Humans
- Male
- Mutation
- Pedigree
- Phosphotransferases (Phosphomutases)
- Prenatal Diagnosis