A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.
Taha
Doris
D
Division of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre-Jeddah, Kingdom of Saudi Arabia. dtaha@kfshrc.edu.sa
Khider
Amina
A
Cullinane
Andrew R
AR
Gissen
Paul
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D001851:Bone Diseases, Metabolic / Q000235:genetics*; D050723:Fractures, Bone / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D013577:Syndrome; D033921:Vesicular Transport Proteins / Q000235:genetics*
C411584:VPS33B protein, human; D033921:Vesicular Transport Proteins