Bhlha9 regulates apical ectodermal ridge formation during limb development.

Abstract excerpt

Split hand/foot malformation (SHFM) and SHFM combined with long-bone deficiency (SHFLD) are congenital dysgeneses of the limb. Although six different loci/mutations (SHFM1-SHFM6) have been found from studies on families with SHFM, the causes and associated pathogenic mechanisms for a large number of patients remain unidentified. On the basis of the identification of a duplicated gene region involving BHLHA9 in...

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• Basic Helix-Loop-Helix Transcription Factors
• Ectoderm
• Extremities
• Fibroblast Growth Factor 8
• Gene Expression Regulation, Developmental