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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...

詳細記述

保存先:
書誌詳細
出版年:Mol Syndromol
主要な著者: Fukami, Maki, Seki, Atsuhito, Ogata, Tsutomu
フォーマット: Artigo
言語:Inglês
出版事項: S. Karger AG 2016
主題:
オンライン・アクセス: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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