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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: Ogata, T., Matsuo, N., Nishimura, G.
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2001
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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