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

• मुख्य लेखकों: Won Bok Choi (लेखक), Seung Hyeon Seo (लेखक), Woo Hyun Yoo (लेखक), Su Young Kim (लेखक), Min Jung Kwak (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Korean Society of Pediatric Endocrinology, 2015-09-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...