Bowen syndrome: congenital glaucoma, flexion contracture of fingers and facial dysmorphism without peroxisomal abnormalities.
Billette de Villemeur
T
T
Bijaoui
G
G
Beauvais
P
P
Richardet
J M
JM
D003286:Contracture / Q000150:complications*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005901:Glaucoma / Q000151:congenital*; D006801:Humans; D007223:Infant; D008830:Microbodies; D013577:Syndrome