Article
CELSR2 is a candidate susceptibility gene in idiopathic scoliosis.
PloS one - 1 Jan 2017
Einarsdottir Elisabet, Grauers Anna, Wang Jingwen, Jiao Hong, Escher Stefan A, Danielsson Aina, Simony Ane, Andersen Mikkel, Christensen Steen Bach, Åkesson Kristina, Kou Ikuyo, Khanshour Anas M, Ohlin Acke, Wise Carol, Ikegawa Shiro, Kere Juha, Gerdhem Paul
Abstract excerpt
A Swedish pedigree with an autosomal dominant inheritance of idiopathic scoliosis was initially studied by genetic linkage analysis, prioritising genomic regions for further analysis. This revealed a locus on chromosome 1 with a putative risk haplotype shared by all affected individuals. Two affected individuals were subsequently exome-sequenced, identifying a rare, non-synonymous variant in the CELSR2 gene. This...
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