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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Ann Pediatr Endocrinol Metab
Main Authors: Choi, Won Bok, Seo, Seung Hyeon, Yoo, Woo Hyun, Kim, Su Young, Kwak, Min Jung
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society of Pediatric Endocrinology 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4623345/
https://ncbi.nlm.nih.gov/pubmed/26512353
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2015.20.3.162
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados