Article
Split hand foot malformation is associated with a reduced level of Dactylin gene expression.
Clinical genetics - 1 Oct 2003
Basel D, DePaepe A, Kilpatrick M W, Tsipouras P
Abstract excerpt
Split hand foot malformation (SHFM) is a congenital limb malformation presenting with a median cleft of the hand and/or foot, syndactyly and polydactyly. SHFM is genetically heterogeneous with four loci mapped to date. Murine Dactylaplasia (Dac) is phenotypically similar, and it has been mapped to a syntenic region of 10q24, where SHFM3 has been localized. Structural alterations of the gene-encoding dactylin, a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
