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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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Bibliografiske detaljer
Main Authors: Ogata, T., Matsuo, N., Nishimura, G.
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2001
Fag:
Online adgang: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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