title: Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.
authors.forename: E
authors.initials: E
authors.lastname: Schollen
authors.forename: S
authors.initials: S
authors.lastname: Kjaergaard
authors.forename: T
authors.initials: T
authors.lastname: Martinsson
authors.forename: S
authors.initials: S
authors.lastname: Vuillaumier-Barrot
authors.forename: M
authors.initials: M
authors.lastname: Dunoe
authors.forename: L
authors.initials: L
authors.lastname: Keldermans
authors.forename: N
authors.initials: N
authors.lastname: Seta
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
mesh_terms: D000483:Alleles; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006031:Glycosylation; D006801:Humans; D020125:Mutation, Missense; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase