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Skeletal dysplasia and sacral dimples are also found in a minority of patients. Here, we describe a 3\u2010generation family with caudal appendage, other sacral anomalies, and skeletal abnormalities including hypoplasia of the iliac wings and scapulae, fusion of the carpal bones and stenosis of the spinal canal, as well as a remarkable course of prenatally\u2010detected cardiomyopathy with characteristics changing over time. Genetic analysis showed a heterozygous nonsense variant in the <jats:italic>TAB2<\/jats:italic> gene.<\/jats:p>","DOI":"10.1002\/ajmg.a.62929","type":"journal-article","created":{"date-parts":[[2022,8,24]],"date-time":"2022-08-24T12:16:25Z","timestamp":1661343385000},"page":"3510-3515","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic <i>TAB2<\/i> variant in a 3\u2010generation family"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9876-744X","authenticated-orcid":false,"given":"Saskia","family":"Koene","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Centre  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Floortje","family":"Klerx\u2010Melis","sequence":"additional","affiliation":[{"name":"Department of Radiology Haga Teaching Hospital  The Hague The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arno Anne Willem","family":"Roest","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Leiden University Medical Centre  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maarten Cornelis","family":"Kleijwegt","sequence":"additional","affiliation":[{"name":"Department of Ear Nose and Throat \u2010 Head and Neck Cancer Leiden University Medical Centre  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Bootsma","sequence":"additional","affiliation":[{"name":"Department of Cardiology Leiden University Medical Centre  Leiden The 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