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Booms P, Cisler J, Mathews KR, <i>et al<\/i>. Novel exon skipping mutation in the brillin-1 gene: two &apos;hot spots&apos; for the neonatal Marfan syndrome. Clin Genet 1999; 55: 110-7.","DOI":"10.1034\/j.1399-0004.1999.550207.x"},{"key":"2","doi-asserted-by":"publisher","unstructured":"2. Judge DP, Dietz HC. Marfan&apos;s syndrome. Lancet 2005; 366: 1965-76.","DOI":"10.1016\/S0140-6736(05)67789-6"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Whitelaw CM, Anwar S, Ad\u00e8s LC, Gole GA, Elder JE, Savarirayan R. Primary trabeculodysgenesis in association with neonatal Marfan syndrome. Am J Med Genet A 2004; 128A: 418-21.","DOI":"10.1002\/ajmg.a.30139"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Buntinx IM, Willems PJ, Spitaels SE, Van Reempst PJ, De Paepe AM, Dumon JE. Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency. 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