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...

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Detalles Bibliográficos
Autores principales: Miyoshi, Yoko, Miki, Kazunori, Etani, Yuri, Mushiake, Sotaro, Shimizu, Nobuyuki, Ozono, Keiichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2005
Materias:
Original
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

Internet

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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