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Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location
BACKGROUND—Turner syndrome is characterised by a 45,X karyotype and a variety of skeletal, lymphoedemic, and gonadal anomalies. Genes involved in the Turner phenotype are thought to be X/Y homologous with the X genes escaping X inactivation. Haploinsufficiency of the SHOX gene has been reported to c...
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| Main Authors: | , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BMJ Group
2001
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734929/ https://ncbi.nlm.nih.gov/pubmed/11546827 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.9.591 |
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