The identification of a novel CCNQ gene tail extension variant contributing to STAR Syndrome.
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DOI: 10.1111/cge.14255
Abstract: The 'toe Syndactyly, Telecanthus and Anogenital and Renal malformations'(STAR) syndrome is a rare X-linked dominant inherited kidney ciliopathy caused by CCNQ gene mutations. Here, we investigated the genotype and phenotype in the first two twin… read more here.
Keywords: ccnq gene; tail extension; star syndrome;