Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia).
Romano
S
S
Bajolle
F
F
Valayannopoulos
V
V
Lyonnet
S
S
Colomb
V
V
de Baracé
C
C
Vouhe
P
P
Pouard
P
P
Vuillaumier-Barrot
S
S
Dupré
T
T
de Keyzer
Y
Y
Sidi
D
D
Seta
N
N
Bonnet
D
D
de Lonlay
P
P
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