Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia).
S
S
Romano
F
F
Bajolle
V
V
Valayannopoulos
S
S
Lyonnet
V
V
Colomb
C
C
de Baracé
P
P
Vouhe
P
P
Pouard
S
S
Vuillaumier-Barrot
T
T
Dupré
Y
Y
de Keyzer
D
D
Sidi
N
N
Seta
D
D
Bonnet
P
P
de Lonlay
D018981:Congenital Disorders of Glycosylation / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000209:etiology; D006801:Humans; D008297:Male; D009154:Mutation; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics
D017875:Phosphotransferases (Phosphomutases); C519582:phosphomannomutase 2, human