Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?
Holder-Espinasse
M
M
Marie
S
S
Bourrouillou
G
G
Ceballos-Picot
I
I
Nassogne
M-C
MC
Faivre
L
L
Amiel
J
J
Munnich
A
A
Vincent
M-F
MF
Cormier-Daire
V
V
D000264:Adenylosuccinate Lyase / Q000172:deficiency*; D002675:Child, Preschool; D019066:Facies; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D019767:Maxillofacial Abnormalities / Q000473:pathology*; D008954:Models, Biological; D011687:Purines / Q000378:metabolism; D012640:Seizures / Q000175:diagnosis
D011687:Purines; D000264:Adenylosuccinate Lyase