{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T13:30:53Z","timestamp":1789392653096,"version":"build-2803163510"},"reference-count":18,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2015,5,14]],"date-time":"2015-05-14T00:00:00Z","timestamp":1431561600000},"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":[[2015,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report on a case of Raine syndrome with a mutation in <jats:italic>FAM20C<\/jats:italic> and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification. New features in our patient are cerebellar hypoplasia and pachygyria. We review the literature and conclude that the triad of hypoplastic nose, exophthalmos and generalized osteosclerosis and\/or intracranial calcification is consistent in all molecularly confirmed cases. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37159","type":"journal-article","created":{"date-parts":[[2015,5,14]],"date-time":"2015-05-14T06:26:52Z","timestamp":1431584812000},"page":"2394-2398","source":"Crossref","is-referenced-by-count":23,"title":["Report of a case of Raine syndrome and literature review"],"prefix":"10.1002","volume":"167","author":[{"given":"Mohammed Zain","family":"Seidahmed","sequence":"first","affiliation":[{"name":"Division of Neonatology Department of Pediatrics Security Forces Hospital Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anas M.","family":"Alazami","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center 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