title: A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.
authors.affiliation: Division of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre-Jeddah, Kingdom of Saudi Arabia. dtaha@kfshrc.edu.sa
authors.forename: Doris
authors.initials: D
authors.lastname: Taha
authors.forename: Amina
authors.initials: A
authors.lastname: Khider
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Cullinane
authors.forename: Paul
authors.initials: P
authors.lastname: Gissen
mesh_terms: 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*
chemical_list: C411584:VPS33B protein, human; D033921:Vesicular Transport Proteins