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Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency
Haploinsufficiency of the short stature homeobox-containing (SHOX) gene causes Turner skeletal features, a certain proportion of idiopathic short stature and Leri-Weill dyschondrosteosis (LWD). Here we report a Japanese female with LWD. Her physical growth, skeletal deformity, and endocrine status w...
Autores principales: | Miyoshi, Yoko, Miki, Kazunori, Etani, Yuri, Mushiake, Sotaro, Shimizu, Nobuyuki, Ozono, Keiichi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society for Pediatric Endocrinology
2005
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004926/ https://www.ncbi.nlm.nih.gov/pubmed/24790304 http://dx.doi.org/10.1297/cpe.14.11 |
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