Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.
Schollen
E
E
Kjaergaard
S
S
Martinsson
T
T
Vuillaumier-Barrot
S
S
Dunoe
M
M
Keldermans
L
L
Seta
N
N
Matthijs
G
G
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
D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase