Article
Regulation of Dlx5 and Dlx6 gene expression by p63 is involved in EEC and SHFM congenital limb defects.
Development (Cambridge, England) - 1 Apr 2008
Lo Iacono Nadia, Mantero Stefano, Chiarelli Anna, Garcia Elvin, Mills Alea A, Morasso Maria I, Costanzo Antonio, Levi Giovanni, Guerrini Luisa, Merlo Giorgio R
Abstract excerpt
The congenital malformation Split Hand-Foot Malformation (SHFM, or ectrodactyly) is characterized by a medial cleft of hands and feet, and missing central fingers. Five genetically distinct forms are known in humans; the most common (type-I) is linked to deletions of DSS1 and the distalless-related homeogenes DLX5 and DLX6. As Dlx5;Dlx6 double-knockout mice show a SHFM-like phenotype, the human orthologs are...
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