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

Internet

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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