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We report a case of a boy with suspected Marfan syndrome. Genetic analysis revealed c.3207_3217+9del in a heterozygote form of the fibrillin-2 (<jats:italic>FBN2)<\/jats:italic> gene. This patient was diagnosed with CCA based on his phenotype, and the pathogenicity of this variant was classified according to cDNA analysis and protein modeling.<\/jats:p>","DOI":"10.1038\/s41439-024-00264-1","type":"journal-article","created":{"date-parts":[[2024,2,8]],"date-time":"2024-02-08T04:46:59Z","timestamp":1707367619000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel variant of FBN2 in a patient with congenital contractual arachnodactyly"],"prefix":"10.1038","volume":"11","author":[{"given":"Mina","family":"Nakama","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Miwa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayaka","family":"Manabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeru","family":"Shimamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidenori","family":"Ohnishi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,2,8]]},"reference":[{"key":"264_CR1","doi-asserted-by":"publisher","first-page":"640","DOI":"10.1136\/jmg.31.8.640","volume":"31","author":"D Viljoen","year":"1994","unstructured":"Viljoen, D. 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