A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.

作者信息

Taha Doris, Khider Amina, Cullinane Andrew R, Gissen Paul

机构信息

Division of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre-Jeddah, Kingdom of Saudi Arabia.

出版信息

Am J Med Genet A. 2007 Dec 1;143A(23):2835-7. doi: 10.1002/ajmg.a.32051.

DOI:10.1002/ajmg.a.32051

PMID:17994566

Abstract

摘要

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