Split-hand/foot malformation - molecular cause and implications in genetic counseling.

Abstract excerpt

Split-hand/foot malformation (SHFM) is a congenital limb defect affecting predominantly the central rays of the autopod and occurs either as an isolated trait or part of a multiple congenital anomaly syndrome. SHFM is usually sporadic, familial forms are uncommon. The condition is clinically and genetically heterogeneous and shows mostly autosomal dominant inheritance with variable expressivity and reduced...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Abnormalities, Multiple
• Share to Chromosome Aberrations
• Share to Comparative Genomic Hybridization