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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Detaylı Bibliyografya
Asıl Yazarlar: Kim, Hyoung-Young, Yoon, Chong Hyun, Kim, Gu-Hwan, Yoo, Han-Wook, Lee, Byong Sop, Kim, Ki Soo, Kim, Ellen Ai-Rhan
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The Korean Academy of Medical Sciences 2011
Konular:
Case Report
Online Erişim: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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