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Heterozygous and biallelic variants in <jats:italic>TBX6<\/jats:italic> are associated with vertebral and rib malformations (<jats:italic>TBX6<\/jats:italic>\u2010associated congenital scoliosis) and spondylocostal dysostosis, and heterozygous <jats:italic>TBX6<\/jats:italic> variants are associated with increased risk of genitourinary tract malformations. Combined skeletal and kidney phenotypes in individuals harboring heterozygous or biallelic <jats:italic>TBX6<\/jats:italic> variants are rare. Here, we present seven individuals with vertebral and rib malformations and structural kidney differences associated with heterozygous <jats:italic>TBX6<\/jats:italic> gene deletion in trans with a hypomorphic <jats:italic>TBX6<\/jats:italic> allele or biallelic <jats:italic>TBX6<\/jats:italic> variants<jats:italic>.<\/jats:italic> Our case series highlights the association between <jats:italic>TBX6<\/jats:italic> and both skeletal and kidney disease.<\/jats:p>","DOI":"10.1002\/ajmg.a.62972","type":"journal-article","created":{"date-parts":[[2022,9,26]],"date-time":"2022-09-26T16:23:46Z","timestamp":1664209426000},"page":"3469-3481","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["<scp><i>TBX6<\/i><\/scp> as a cause of a combined skeletal\u2010kidney dysplasia syndrome"],"prefix":"10.1002","volume":"188","author":[{"given":"Guozhuang","family":"Li","sequence":"first","affiliation":[{"name":"Department of Orthopedic 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Capital Medical University  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji\u2010Sun","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Rutgers Robert Wood Johnson Medical Center  New Brunswick New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Watson","sequence":"additional","affiliation":[{"name":"The Center for Applied Genomics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sen","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital Peking Union Medical College and Chinese Academy of Medical Sciences  Beijing China"},{"name":"Key Laboratory of Big Data for Spinal Deformities Chinese Academy of Medical Sciences  Beijing China"},{"name":"Beijing 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