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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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Detaylı Bibliyografya
Asıl Yazarlar: Ogata, T., Matsuo, N., Nishimura, G.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Group 2001
Konular:
Online Erişim: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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