Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome.
Skladal
D
D
Department of Pediatrics, University of Innsbruck, Austria.
Sperl
W
W
Henry
H
H
Bachmann
C
C
D000015:Abnormalities, Multiple / Q000209:etiology; D002386:Cataract / Q000151:congenital*; D018981:Congenital Disorders of Glycosylation / Q000150:complications*; D015180:Electrophoresis, Gel, Two-Dimensional; D004591:Electrophoresis, Polyacrylamide Gel; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D014034:Toes / Q000002:abnormalities*