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SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature

SHOX in the short arm pseudoautosomal region (PAR1) of sex chromosomes is one of the major growth genes in humans. SHOX haploinsufficiency results in idiopathic short stature and Léri-Weill dyschondrosteosis and is associated with the short stature of patients with Turner syndrome. The SHOX protein...

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Publicado en:Mol Syndromol
Autores principales: Fukami, Maki, Seki, Atsuhito, Ogata, Tsutomu
Formato: Artigo
Lenguaje:Inglês
Publicado: S. Karger AG 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4862394/
https://ncbi.nlm.nih.gov/pubmed/27194967
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000444596
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