{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T18:47:07Z","timestamp":1791139627604,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T00:00:00Z","timestamp":1376611200000},"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":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Raine syndrome is an autosomal recessive disorder caused by mutations in the <jats:italic>FAM20C<\/jats:italic> gene that is characterized by generalized osteosclerosis with periosteal new bone formation and distinctive craniofacial dysmorphism. We report on a child who is homozygous for a 487\u2010kb deletion in 7p22.3 that contains <jats:italic>FAM20C<\/jats:italic>. Both parents were heterozygous for the deletion. Our patient had the common craniofacial features as well as, uncommon features such as protruding tongue, short stature, and hypoplastic distal phalanges. In addition, he had wormian bones and pyriform aperture stenosis, features that are usually under diagnosed. It is clear that Raine syndrome has a wide range of expression and may not be lethal in the neonatal period. Furthermore, Raine cases due to whole gene deletion do not seem to have a major difference in the phenotype over those caused by various mutations. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36160","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T17:31:24Z","timestamp":1376674284000},"page":"3155-3160","source":"Crossref","is-referenced-by-count":39,"title":["Hereditary deletion of the entire <i>FAM20C<\/i> gene in a patient with Raine syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Farouq K.","family":"Ababneh","sequence":"first","affiliation":[{"name":"Division of Genetics Department of Pediatrics King Abdulaziz Medical City for National Guard Health Affairs Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulrahman","family":"AlSwaid","sequence":"additional","affiliation":[{"name":"Division of Genetics Department of Pediatrics King Abdulaziz Medical City for National Guard Health Affairs Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Talaat","family":"Youssef","sequence":"additional","affiliation":[{"name":"Department of Radiology King Abdulaziz Medical City for National Guard Health Affairs Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manaf","family":"Al Azzawi","sequence":"additional","affiliation":[{"name":"Division of Plastic and Craniofacial Surgery King Abdulaziz Medical City for National Guard Health Affairs Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Crosby","sequence":"additional","affiliation":[{"name":"Medical Genetics St. George's University London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed A.","family":"AlBalwi","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine King Abdulaziz Medical City for National 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