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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Bibliographic Details
Main Authors: Won Bok Choi, Seung Hyeon Seo, Woo Hyun Yoo, Su Young Kim, Min Jung Kwak
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2015-09-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
Online Access:http://e-apem.org/upload/pdf/apem-20-162.pdf