{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T17:17:44Z","timestamp":1783012664384,"version":"3.54.6"},"reference-count":26,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T00:00:00Z","timestamp":1775174400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T00:00:00Z","timestamp":1775174400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Malan syndrome is an ultra\u2010rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (\n                    <jats:italic>NFIX<\/jats:italic>\n                    ) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients. This report further establishes the common characteristics of Malan syndrome, expands the ophthalmologic features and airway distress phenotypes, and provides updated management recommendations.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70147","type":"journal-article","created":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T10:16:56Z","timestamp":1775211416000},"page":"1783-1798","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature"],"prefix":"10.1002","volume":"200","author":[{"given":"Alex F.","family":"Nisbet","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania 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Pediatrics, Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Genetics, Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Center for Childhood Cancer Research Children's Hospital of Philadelphia  Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,4,3]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bandl.2011.06.002"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2025.2482609"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022\u20103476(52)80205\u20107"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/children12020147"},{"key":"e_1_2_11_6_1","volume-title":"WHO Child Growth 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