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On the cover: The image, provided courtesy of Dr. G. Thomas Watters, Ohio State University, is based on the Original article, Compound heterozygosity for null mutations and a common hypomorphic risk haplotype in TBX6 causes congenital scoliosis, by Shiro Ikegawa et al., Pages 317–323. DOI: 10.1002/humu.23168.
Congenital scoliosis (CS) occurs as a result of vertebral malformations and has an incidence of 0.5–1/1,000 births. Recently, TBX6 on chromosome 16p11.2 was reported as a disease gene for CS; about 10% of Chinese CS patients were compound heterozygotes for rare null mutations and a common haplotype defined by three SNPs in TBX6. All patients had hemivertebrae. We recruited 94 Japanese CS patients,...
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