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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Kim, Hyoung-Young, Yoon, Chong Hyun, Kim, Gu-Hwan, Yoo, Han-Wook, Lee, Byong Sop, Kim, Ki Soo, Kim, Ellen Ai-Rhan
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: The Korean Academy of Medical Sciences 2011
विषय:
Case Report
ऑनलाइन पहुंच: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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