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Different Skeletal Phenotypes in a Mother and Two Daughters with Short Stature Homeobox-Containing Haploinsufficiency

Haploinsufficiency of the short stature homeobox-containing (SHOX) gene causes Turner skeletal features such as short metacarpals, cubitus valgus, and Madelung deformity. We report the clinical findings of a Japanese family consisting of two daughters with SHOX haploinsufficiency (46, X, del(X) (p.2...

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Detalles Bibliográficos
Autores principales:	Nagasaki, Keisuke, Kikuchi, Toru, Uchiyama, Makoto
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society for Pediatric Endocrinology 2007
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004891/ https://www.ncbi.nlm.nih.gov/pubmed/24790348 http://dx.doi.org/10.1297/cpe.16.69

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