Deletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus.

Abstract excerpt

BACKGROUND: Deletions of the HOXC gene cluster result in variable phenotypes in mice, but have been rarely described in humans. OBJECTIVE: To report chromosome 12q13.13 microdeletions ranging from 13 to 175 kb and involving the 5' HOXC genes in four families, segregating congenital lower limb malformations, including clubfoot, vertical talus and hip dysplasia. METHODS: Probands (N=253) with clubfoot or vertical...

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