{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:20Z","timestamp":1772160080336,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,1,29]],"date-time":"2025-01-29T00:00:00Z","timestamp":1738108800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    STAR syndrome is a very rare X\u2010linked dominant disorder characterized by the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, and anogenital and renal malformations. We hereby report a patient with a novel frameshift mutation in\n                    <jats:italic>CCNQ<\/jats:italic>\n                    , the STAR syndrome causative gene. More importantly, the patient presented hitherto unreported clinical features, namely toe polydactyly in addition to syndactyly, and a supernumerary nipple. This nineteenth reported case further broadens the phenotypic spectrum of STAR syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.14711","type":"journal-article","created":{"date-parts":[[2025,1,30]],"date-time":"2025-01-30T01:33:52Z","timestamp":1738200832000},"page":"92-95","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of\n                    <scp>STAR<\/scp>\n                    Syndrome"],"prefix":"10.1111","volume":"108","author":[{"given":"Omar","family":"Zgheib","sequence":"first","affiliation":[{"name":"Division of Genetic Medicine, Department of Diagnostics Geneva University Hospitals  Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00e9a","family":"Jacques","sequence":"additional","affiliation":[{"name":"Division of General Pediatrics, Department of Pediatrics, Gynecology and Obstetrics Geneva University Hospitals  Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise","family":"Frizon","sequence":"additional","affiliation":[{"name":"Division of General Pediatrics, Department of Pediatrics, Gynecology and Obstetrics Geneva University Hospitals  Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Windisch","sequence":"additional","affiliation":[{"name":"Division of General Pediatrics, Department of Pediatrics, Gynecology and Obstetrics Geneva University Hospitals  Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siv","family":"Fokstuen","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, Department of Diagnostics Geneva University Hospitals  Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,1,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.7.594"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.86"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38113"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38484"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajoc.2022.101284"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2020.1854213"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14255"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1782"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21360"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14711","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T06:27:22Z","timestamp":1762928842000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14711"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,29]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1111\/cge.14711"],"URL":"https:\/\/doi.org\/10.1111\/cge.14711","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14711\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14711\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14711\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14711\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14711\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14711\/v1\/review3","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14711\/v2\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,29]]},"assertion":[{"value":"2024-10-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-20","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-29","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}