A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of 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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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Korean Society of Pediatric Endocrinology
2015-09-01
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| coleção: | Annals of Pediatric Endocrinology & Metabolism |
| Assuntos: | |
| Acesso em linha: | http://e-apem.org/upload/pdf/apem-20-162.pdf |
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