Article
A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype.
Human molecular genetics - 1 Mar 2009
Fantini Sebastian, Vaccari Giulia, Brison Nathalie, Debeer Philippe, Tylzanowski Przemko, Zappavigna Vincenzo
Abstract excerpt
The 5' members of the HoxD gene cluster (paralogous groups 9-13) are crucial for correct vertebrate limb patterning. Mutations in the HOXD13 gene have been found to cause synpolydactyly (SPD) and other limb malformations in human. We report the identification in a Greek family of a variant form of SPD caused by a novel missense mutation that substitutes glycine for valine in position 220 (G220V) of HOXD13. This...
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