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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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| Опубликовано в: : | Mol Syndromol |
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| Главные авторы: | , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
S. Karger AG
2016
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| Предметы: | |
| Online-ссылка: | 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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