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What is Understanding Split-Hand/Foot Malformation about?

This document summarizes split-hand/split-foot malformation (SHFM), a congenital limb malformation characterized by a deep median cleft of the hand and/or foot. SHFM results from a failure to maintain signaling from the apical ectodermal ridge (AER) during limb development. While SHFM can occur isolated or as part of a syndrome, studies in mouse models indicate AER signaling failure is the main pathogenic mechanism. The identification of human and mouse mutations contributing to SHFM can enhance understandi

Author

Karl Jimenez Separa

Language

EN