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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Detaylı Bibliyografya
Yayımlandı:Ann Pediatr Endocrinol Metab
Asıl Yazarlar: Choi, Won Bok, Seo, Seung Hyeon, Yoo, Woo Hyun, Kim, Su Young, Kwak, Min Jung
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The Korean Society of Pediatric Endocrinology 2015
Konular:
Case Report
Online Erişim: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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