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A Case of Campomelic Dysplasia without Sex Reversal
Campomelic dysplasia (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism, is due to mutations in SOX9, a member of the SOX (SRY-related HMG box) gene family. Multiparous mother at 38 weeks' gestation delivered a 3,272 g baby boy with characteristic phenotypes including bowing of...
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| Main Authors: | , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
The Korean Academy of Medical Sciences
2011
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3012840/ https://ncbi.nlm.nih.gov/pubmed/21218044 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2011.26.1.143 |
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