{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T03:38:37Z","timestamp":1792467517267,"version":"4.5.0"},"reference-count":13,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T00:00:00Z","timestamp":1792368000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T00:00:00Z","timestamp":1792368000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Biallelic pathogenic variants in\n                    <jats:italic>UBR7<\/jats:italic>\n                    , encoding ubiquitin protein ligase E3 component n\u2010recognin 7, cause Li\u2013Campeau syndrome (LICAS; OMIM #619189), which is characterized by developmental delay\/intellectual disability, epilepsy, hypothyroidism, ptosis, genital anomalies, and cardiac anomalies. LICAS is an ultrarare disorder, and to date, only nine patients from eight unrelated families have been reported with detailed clinical phenotypes. Here, we report an 18\u2010year\u2010old female patient with dysmorphic facial features, ptosis, congenital hypothyroidism, intellectual disability, stereotypic hand movements, attention\u2010deficit\/hyperactivity disorder, hepatosplenomegaly, and toenail hypoplasia. In contrast to previously reported patients, all of whom presented with global developmental delay, our patient achieved age\u2010appropriate early motor and language milestones, representing the mildest early developmental course reported in LICAS to date. Exome sequencing revealed a homozygous deletion encompassing Exon 7 of\n                    <jats:italic>UBR7<\/jats:italic>\n                    , representing the first single\u2010exon deletion reported in this gene. This report expands both the phenotypic and genotypic spectrum of LICAS and underscores the clinical utility of Next generation sequencing\u2010based copy\u2010number variant analysis in the diagnostic workup of rare diseases.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70342","type":"journal-article","created":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T02:42:28Z","timestamp":1792464148000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the Genotypic and Phenotypic Spectrum of Li\u2013Campeau Syndrome: A Homozygous Single\u2010Exon Deletion in\n                    <scp>UBR7<\/scp>"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3651-9467","authenticated-orcid":false,"given":"Tarik","family":"Duzenli","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Department of Medical Genetics Gazi University  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7110-6246","authenticated-orcid":false,"given":"Damla","family":"Y\u0131ld\u0131z","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics Hacettepe University  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4286-243X","authenticated-orcid":false,"given":"Gulsum","family":"Kayhan","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Medical Genetics Gazi University  Ankara T\u00fcrkiye"},{"name":"Clinic of Medical Genetics Memorial Health Group  \u0130stanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanife","family":"Saat","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Medical Genetics Gazi University  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-7766","authenticated-orcid":false,"given":"Pelin \u00d6zlem","family":"\u015eim\u015fek\u2010Kiper","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics Hacettepe University  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010019\u201008986\u20105"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.4274\/jpea.2023.221"},{"key":"e_1_2_7_4_1","volume-title":"ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2024","author":"Durkie 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