Article
A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].
PLoS genetics - 1 May 2014
Cross Sally H, Macalinao Danilo G, McKie Lisa, Rose Lorraine, Kearney Alison L, Rainger Joe, Thaung Caroline, Keighren Margaret, Jadeja Shalini, West Katrine, Kneeland Stephen C, Smith Richard S, Howell Gareth R, Young Fiona, Robertson Morag, van T' Hof Rob, John Simon W M, Jackson Ian J
Abstract excerpt
Mutations in the LIM-homeodomain transcription factor LMX1B cause nail-patella syndrome, an autosomal dominant pleiotrophic human disorder in which nail, patella and elbow dysplasia is associated with other skeletal abnormalities and variably nephropathy and glaucoma. It is thought to be a haploi...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.