STAR syndrome: a further case and the first report of maternal mosaicism.
Sign Up to like & getrecommendations! Published in 2017 at "Clinical dysmorphology"
DOI: 10.1097/mcd.0000000000000176
Abstract: Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Headington and Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Correspondence to Henrietta Lefroy,… read more here.
Keywords: star syndrome; medicine; oxford; nhs foundation ... See more keywords
The identification of a novel CCNQ gene tail extension variant contributing to STAR Syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical genetics"
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;