A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX 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...

Descripción completa

Detalles Bibliográficos
Autores principales: Choi, Won Bok, Seo, Seung Hyeon, Yoo, Woo Hyun, Kim, Su Young, Kwak, Min Jung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Endocrinology 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623345/
https://www.ncbi.nlm.nih.gov/pubmed/26512353
http://dx.doi.org/10.6065/apem.2015.20.3.162

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623345/
https://www.ncbi.nlm.nih.gov/pubmed/26512353
http://dx.doi.org/10.6065/apem.2015.20.3.162

Ejemplares similares