Article
Evidence of functional redundancy between MID proteins: implications for the presentation of Opitz syndrome.
Developmental biology - 15 Jan 2005
Granata Alessandra, Savery Dawn, Hazan Jamile, Cheung Billy M F, Lumsden Andrew, Quaderi Nandita A
Abstract excerpt
Opitz G/BBB syndrome (OS) is a congenital defect characterized by hypertelorism and hypospadias, but additional midline malformations are also common in OS patients. X-linked OS is caused by mutations in the ubiquitin ligase MID1. In chick, MID1 is involved in left-right determination: a mutually repressive relationship between Shh and cMid1 in Hensen's node plays a key role in establishing the avian left-right...
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