Article
PLS3 Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations.
Hormone research in paediatrics - 1 Jan 2017
Kannu Peter, Mahjoub Areej, Babul-Hirji Riyana, Carter Melissa T, Harrington Jennifer
Abstract excerpt
BACKGROUND AND OBJECTIVES: Plastin 3 (PLS3) mutations are associated with an X-linked osteoporosis. Here we describe two new families with novel mutations, including one with a whole gene PLS3 deletion, and review the literature on 9 previously reported cases. RESULTS: Hemizygous male carriers presented with multiple peripheral bone fractures, low bone mineral density (BMD), and vertebral compression fractures....
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