A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of gene

Leri-Weill dyschondrosteosis is characterized by SHOX deficiency, Madelung deformity, and mesomelic short stature. In addition, SHOX deficiency is associated with idiopathic short stature, Turner syndrome, and Langer mesomelic dysplasia. We report the first case of a Leri-Weill dyschondrosteosis pat...

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Main Authors: Won Bok Choi (Author), Seung Hyeon Seo (Author), Woo Hyun Yoo (Author), Su Young Kim (Author), Min Jung Kwak (Author)
Format: Book
Published: Korean Society of Pediatric Endocrinology, 2015-09-01T00:00:00Z.
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