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Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation

Lee HN, Kim CY, Jung E, Lee BH, Lee BS, Kim EAR, Kim KS

Campomelic dysplasia (CD) is a rare genetic disease characterized by skeletal dysplasia that also affects several other organ systems. CD is caused by a SOX9 mutation. We here report a...
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A Case of Campomelic Dysplasia without Sex Reversal

Kim HY, Yoon CH, Kim GH, Yoo HW, Lee BS, Kim KS, Kim EA

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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