{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T21:02:37Z","timestamp":1777928557534,"version":"3.51.4"},"reference-count":10,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Allergy, Immunology, and Pulmonology"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) caused by\n                      <jats:italic toggle=\"yes\">Exostosin-Like Glycosyltransferase 3 (EXTL3)<\/jats:italic>\n                      biallelic mutations is a very rare syndrome with only 16 cases reported in the literature. Skeletal dysplasia, neurodevelopmental delay, immunodeficiency, liver, and kidney cysts are the most common findings of this syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation:<\/jats:title>\n                    <jats:p>\n                      Here, we report on a patient who exhibited a lethal phenotype with clinical characteristics of this syndrome and had a homozygous pathogenic mutation in\n                      <jats:italic toggle=\"yes\">EXTL3<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>ISDNA should be kept in mind in the differential diagnosis of patients presenting with neuro-immuno-skeletal dysplasia phenotype.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/ped.2023.0079","type":"journal-article","created":{"date-parts":[[2023,11,27]],"date-time":"2023-11-27T11:41:11Z","timestamp":1701085271000},"page":"147-149","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>EXTL3<\/i>\n                    -Associated Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities: A Lethal Phenotype"],"prefix":"10.1177","volume":"36","author":[{"given":"Engin","family":"Demir","sequence":"first","affiliation":[{"name":"Division of Pediatric Gastroenterology, Department of Pediatrics, Mersin City Training and Research Hospital, Mersin, Turkey."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filiz","family":"Ad\u0131m","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Mersin City Training and Research Hospital, Mersin, Turkey."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet Erc\u00fcment","family":"D\u00f6\u011fen","sequence":"additional","affiliation":[{"name":"Department of Radiology, Mersin City Training and Research Hospital, Mersin, Turkey."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4467-9652","authenticated-orcid":false,"given":"Ay\u015fe","family":"Aydo\u011fdu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Allergy and Immunology, Department of Pediatrics, Mersin City Training and Research Hospital, Mersin, Turkey."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edanur","family":"Ye\u015fil","sequence":"additional","affiliation":[{"name":"Division of Pediatric Infectious Diseases, Department of Pediatrics, Mersin City Training and Research Hospital, Mersin, Turkey."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serdar","family":"Mermer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Mersin City Training and Research Hospital, Mersin, Turkey."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Burak","family":"Ba\u015fer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Mersin City Training and Research Hospital, Mersin, Turkey."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gizem","family":"\u00dcrel Demir","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics, Mersin City Training and Research Hospital, Mersin, 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