- A Case of Campomelic Dysplasia without Sex Reversal
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Kim HY, Yoon CH, Kim GH, Yoo HW, Lee BS, Kim KS, Kim EA
- KMID: 1777990
- J Korean Med Sci.
- 2011 Jan;26(1):143-145.
- doi: 10.3346/jkms.2011.26.1.143
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... -
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