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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Dettagli Bibliografici
Pubblicato in:Ann Pediatr Endocrinol Metab
Autori principali: Choi, Won Bok, Seo, Seung Hyeon, Yoo, Woo Hyun, Kim, Su Young, Kwak, Min Jung
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Korean Society of Pediatric Endocrinology 2015
Soggetti:
Case Report
Accesso online: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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