{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T08:03:19Z","timestamp":1780387399309,"version":"3.54.1"},"reference-count":19,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2018,9,8]],"date-time":"2018-09-08T00:00:00Z","timestamp":1536364800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>Shawaf\u2010Traboulsi syndrome (or Traboulsi syndrome; MIM 601552) is an infrequently reported entity characterized by a typical face (long face, large nose, convex nasal ridge, underdeveloped malae, crowded teeth, retrognathia), skeletal signs (long and slender fingers, sometimes pectus deformation and hypermobile joints), and <jats:italic>ectopia lentis<\/jats:italic> with conjunctival blebs, shallow anterior chamber and iridocorneal adhesions. The entity is caused by homozygous variants in <jats:italic>ASPH<\/jats:italic>. Here, we report on a boy with the clinical diagnosis of Shawaf\u2010Traboulsi syndrome, in whom exome sequencing allowed identification of a novel variant in <jats:italic>ASPH<\/jats:italic>. We compare the findings in the present patient to those of earlier reported patients; furthermore add new signs for this entity.<\/jats:p>","DOI":"10.1002\/ajmg.a.40508","type":"journal-article","created":{"date-parts":[[2018,9,8]],"date-time":"2018-09-08T20:54:05Z","timestamp":1536440045000},"page":"2494-2500","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["A novel <i>ASPH<\/i> variant extends the phenotype of Shawaf\u2010Traboulsi syndrome"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0276-2557","authenticated-orcid":false,"given":"Hugo H.","family":"Abarca Barriga","sequence":"first","affiliation":[{"name":"Department of Genetic &amp; Inborn Errors of Metabolism Instituto Nacional de Salud del Ni\u00f1o  Lima Peru"},{"name":"Human Medicine Faculty Universidad Ricardo Palma  Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathaly","family":"Caballero","sequence":"additional","affiliation":[{"name":"Human Medicine Faculty Universidad Ricardo Palma  Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milana","family":"Trubnykova","sequence":"additional","affiliation":[{"name":"Department of Genetic &amp; Inborn Errors of Metabolism Instituto Nacional de Salud del Ni\u00f1o  Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda del Carmen","family":"Castro\u2010Mujica","sequence":"additional","affiliation":[{"name":"Human Medicine Faculty Universidad Ricardo Palma  Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge E.","family":"La Serna\u2010Infantes","sequence":"additional","affiliation":[{"name":"Department of Anatomical Pathology Hospital Nacional Guillermo Almenara  Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flor","family":"V\u00e1squez","sequence":"additional","affiliation":[{"name":"Department of Genetic &amp; Inborn Errors of Metabolism Instituto Nacional de Salud del Ni\u00f1o  Lima Peru"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C.","family":"Hennekam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Translational Genetics, Academic Medical Center University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,9,8]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2013.274"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12358"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M006753200"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110389200"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810903567604"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.10.3609"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.prp.2011.06.001"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(2001)9999:9999<::AID-AJMG1156>3.0.CO;2-V"},{"key":"e_1_2_4_10_1","first-page":"225","volume-title":"Harley's Pediatric Ophthalmology","author":"Harley R. 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