{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:01Z","timestamp":1786976821680,"version":"build-2736575974"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,1,29]],"date-time":"2014-01-29T00:00:00Z","timestamp":1390953600000},"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":[[2014,5]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Van den Ende\u2013Gupta Syndrome (VDEGS) is an autosomal recessive disorder characterized by blepharophimosis, distinctive nose, hypoplastic maxilla, and skeletal abnormalities. Using homozygosity mapping in four VDEGS patients from three consanguineous families, Anastacio et al. [Anastacio et al. (2010); Am J Hum Genet 87:553\u2013559] identified homozygous mutations in\n                      <jats:italic>SCARF2<\/jats:italic>\n                      , located at 22q11.2. Bedeschi et al. [2010] described a VDEGS patient with sclerocornea and cataracts with compound heterozygosity for the common 22q11.2 microdeletion and a hemizygous\n                      <jats:italic>SCARF2<\/jats:italic>\n                      mutation. Because sclerocornea had been described in DiGeorge\u2010velo\u2010cardio\u2010facial syndrome but not in VDEGS, they suggested that the ocular abnormalities were caused by the 22q11.2 microdeletion. We report on a 23\u2010year\u2010old male who presented with bilateral sclerocornea and the VDGEGS phenotype who was subsequently found to be homozygous for a 17\u2009bp deletion in exon 4 of\n                      <jats:italic>SCARF2<\/jats:italic>\n                      . The occurrence of bilateral sclerocornea in our patient together with that of Bedeschi et al., suggests that the full VDEGS phenotype may include sclerocornea resulting from homozygosity or compound heterozygosity for loss of function variants in\n                      <jats:italic>SCARF2<\/jats:italic>\n                      . \u00a9 2014 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36425","type":"journal-article","created":{"date-parts":[[2014,1,29]],"date-time":"2014-01-29T16:11:24Z","timestamp":1391011884000},"page":"1170-1174","source":"Crossref","is-referenced-by-count":16,"title":["Sclerocornea in a patient with van den Ende\u2013Gupta syndrome homozygous for a\n                    <i>SCARF2<\/i>\n                    microdeletion"],"prefix":"10.1002","volume":"164","author":[{"given":"Michele P.","family":"Migliavacca","sequence":"first","affiliation":[{"name":"Clinical Genetics, Department of Morphology and Genetics UNIFESP S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nara L. M.","family":"Sobreira","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graziela P.M.","family":"Antonialli","sequence":"additional","affiliation":[{"name":"Clinical Genetics, Department of Morphology and Genetics UNIFESP S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana M.","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Laboratory of Cytogenetics, Genetics Department of Morphology and Genetics UNIFESP S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Isabel S.A.","family":"Melaragno","sequence":"additional","affiliation":[{"name":"Laboratory of Cytogenetics, Genetics Department of Morphology and Genetics UNIFESP S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingele","family":"Casteels","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology University Hospitals Leuven Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomy","family":"de Ravel","sequence":"additional","affiliation":[{"name":"Centre for Human Genetics UZ Leuven Gasthuisberg Campus Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Decio","family":"Brunoni","sequence":"additional","affiliation":[{"name":"Clinical Genetics, Department of Morphology and Genetics UNIFESP S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Valle","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Beatriz 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