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SHOX haploinsufficiency and overdosage: impact of gonadal function status
Since its discovery in 1997, knowledge about the SHOX gene has rapidly increased. In this review, we summarise clinical features and diagnostic and therapeutic implications in SHOX haploinsufficiency and overdosage. SHOX haploinsufficiency usually results in mesomelic short stature and Turner skelet...
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| Hlavní autoři: | , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMJ Group
2001
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734713/ https://ncbi.nlm.nih.gov/pubmed/11134233 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.1.1 |
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