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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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| Gepubliceerd in: | Mol Syndromol |
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| Hoofdauteurs: | , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
S. Karger AG
2016
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| Onderwerpen: | |
| Online toegang: | 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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