Absent expression of the osteoblast-specific maternally imprinted genes, <i>DLX5</i> and <i>DLX6,</i> causes split hand/split foot malformation type I

Abstract

SHFM1 in our family is caused by a heterozygous paternal deletion of enhancers of the osteoblast-specific maternally imprinted DLX6 and DLX5 genes, leading to the absence of their proteins.