Article
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
Human molecular genetics - 1 Mar 2015
McInerney-Leo Aideen M, Sparrow Duncan B, Harris Jessica E, Gardiner Brooke B, Marshall Mhairi S, O'Reilly Victoria C, Shi Hongjun, Brown Matthew A, Leo Paul J, Zankl Andreas, Dunwoodie Sally L, Duncan Emma L
Abstract excerpt
Segmentation defects of the vertebrae (SDV) are caused by aberrant somite formation during embryogenesis and result in irregular formation of the vertebrae and ribs. The Notch signal transduction pathway plays a critical role in somite formation and patterning in model vertebrates. In humans, mutations in several genes involved in the Notch pathway are associated with SDV, with both autosomal recessive (MESP2,...
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