{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T08:22:18Z","timestamp":1789201338750,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,6,21]],"date-time":"2004-06-21T00:00:00Z","timestamp":1087776000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present the clinical and ophthalmological findings in two infants with neonatal Marfan syndrome (nMFS) and primary trabeculodysgenesis (PT). Fibrillin 1 (FBN1) mutations were confirmed in both cases. Numerous eye anomalies have been recognized in infants with nMFS, but PT has not been reported previously. Our report expands the phenotype of nMFS, and highlights the importance of early and careful ophthalmological assessment of these infants. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30139","type":"journal-article","created":{"date-parts":[[2004,6,22]],"date-time":"2004-06-22T07:02:05Z","timestamp":1087887725000},"page":"418-421","source":"Crossref","is-referenced-by-count":6,"title":["Primary trabeculodysgenesis in association with neonatal Marfan syndrome"],"prefix":"10.1002","volume":"128A","author":[{"given":"Charlotte M.","family":"Whitelaw","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samira","family":"Anwar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesley C.","family":"Ad\u00e8s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glen A.","family":"Gole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James E.","family":"Elder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravi","family":"Savarirayan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,6,21]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"458","article-title":"The development of the trabecular meshwork and its abnormality in primary infantile glaucoma","volume":"79","author":"Anderson DR","year":"1981","journal-title":"Trans Am Ophthalmol Soc"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5697"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9207"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550207.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.4.267"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200107000-00011"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/352337a0"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.1.51"},{"key":"e_1_2_6_11_1","first-page":"111","article-title":"Glaucoma in the Marfan syndrome","volume":"90","author":"Izquierdo NJ","year":"1992","journal-title":"Tr Am Ophthmol Soc"},{"key":"e_1_2_6_12_1","first-page":"91","article-title":"Congenital Glaucoma. 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