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

• Main Authors: Won Bok Choi (Author), Seung Hyeon Seo (Author), Woo Hyun Yoo (Author), Su Young Kim (Author), Min Jung Kwak (Author)
• Formato: Livro
• Publicado em: Korean Society of Pediatric Endocrinology, 2015-09-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...