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Sequence analysis and deletion\/duplication testing for a panel of genes involved in connective tissue disorders revealed the presence of a novel homozygous deletion of exons 2\u20137 in <jats:italic>TGFB3<\/jats:italic> gene. Heterozygous pathogenic mutations in <jats:italic>TGFB3<\/jats:italic> have been associated with Loeys\u2010Dietz syndrome 5 (LDS5) and Arrhythmogenic Right Ventricular Dysplasia type 1. Here, we report the first case of a homozygous <jats:italic>TGFB3<\/jats:italic> variant associated with a severe LDS5 and Marfan\u2010like presentation.<\/jats:p>","DOI":"10.1002\/ajmg.a.61508","type":"journal-article","created":{"date-parts":[[2020,2,5]],"date-time":"2020-02-05T13:28:00Z","timestamp":1580909280000},"page":"1230-1235","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Homozygous deletion of exons 2\u20137 within <scp><i>TGFB3<\/i><\/scp> gene in a child with severe Loeys\u2010Dietz syndrome and Marfan\u2010like features"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0714-2469","authenticated-orcid":false,"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"first","affiliation":[{"name":"CRB\u2010BioJel Institut Jerome Lejeune  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asha","family":"Deepthi","sequence":"additional","affiliation":[{"name":"Centre for Arab Genomic Studies  Dubai United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Obeid","sequence":"additional","affiliation":[{"name":"American University of Science and Technology, Faculty of Health Sciences  Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud","family":"T. 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