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...

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Dades bibliogràfiques
Publicat a:Ann Pediatr Endocrinol Metab
Autors principals: Choi, Won Bok, Seo, Seung Hyeon, Yoo, Woo Hyun, Kim, Su Young, Kwak, Min Jung
Format: Artigo
Idioma:Inglês
Publicat: The Korean Society of Pediatric Endocrinology 2015
Matèries:
Case Report
Accés en línia: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
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