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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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Bibliografiske detaljer
Udgivet i:Mol Syndromol
Main Authors: Fukami, Maki, Seki, Atsuhito, Ogata, Tsutomu
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2016
Fag:
Online adgang: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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