{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T20:41:04Z","timestamp":1777581664360,"version":"3.51.4"},"reference-count":11,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2024,3,12]],"date-time":"2024-03-12T00:00:00Z","timestamp":1710201600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100005089","name":"Beijing Municipal Natural Science Foundation","doi-asserted-by":"publisher","award":["NO.7232192"],"award-info":[{"award-number":["NO.7232192"]}],"id":[{"id":"10.13039\/501100005089","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Ophthalmology"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Wolfram-like syndrome (WFLS) is an autosomal dominant inherited disease characterized by a single heterozygous pathogenic variant in the WFS1 gene. Its clinical presentation is similar to autosomal recessive Wolfram syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>We reported a case of a 10-year-old boy and his family members who initially experienced hearing impairment (HI), followed by optic atrophy. Genetic testing revealed the presence of a WFS1 variant (chr4-6302385 exon8 NM_006005.3: c.2590G\u2009&gt;\u2009A, p. Glu864Lys).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Wolfram-like syndrome, a rare neurodegenerative genetic disorder, manifested as deafness, optic atrophy, and diabetes mellitus. There hasn\u2019t been a definite treatment yet. Early identification of the variant in the WFS1 gene is beneficial for genetic counseling.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/11206721241237552","type":"journal-article","created":{"date-parts":[[2024,3,12]],"date-time":"2024-03-12T10:58:32Z","timestamp":1710241112000},"page":"NP51-NP57","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A Wolfram-like syndrome family: Case report"],"prefix":"10.1177","volume":"34","author":[{"given":"Siying","family":"Li","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Peking University People's Hospital, Beijing, China"},{"name":"Eye Diseases and Optometry Institute, Beijing, China"},{"name":"Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, College of Optometry, Peking University Health Science Center, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoxin","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Peking University People's Hospital, Beijing, China"},{"name":"Eye Diseases and Optometry Institute, Beijing, China"},{"name":"Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, College of Optometry, Peking University Health Science Center, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-0221-9433","authenticated-orcid":false,"given":"Jinfeng","family":"Qu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Peking University People's Hospital, Beijing, China"},{"name":"Eye Diseases and Optometry Institute, Beijing, China"},{"name":"Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, College of Optometry, Peking University Health Science Center, Beijing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,3,12]]},"reference":[{"key":"bibr1-11206721241237552","doi-asserted-by":"publisher","DOI":"10.1007\/s11892-015-0702-6"},{"key":"bibr2-11206721241237552","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01522.x"},{"key":"bibr3-11206721241237552","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.180"},{"key":"bibr4-11206721241237552","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10258"},{"key":"bibr5-11206721241237552","doi-asserted-by":"publisher","DOI":"10.1038\/2441"},{"key":"bibr6-11206721241237552","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1367"},{"key":"bibr7-11206721241237552","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-5491.2008.02448.x"},{"key":"bibr8-11206721241237552","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0144-3"},{"key":"bibr9-11206721241237552","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0193359"},{"key":"bibr10-11206721241237552","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.034892"},{"key":"bibr11-11206721241237552","doi-asserted-by":"publisher","DOI":"10.1186\/s12967-019-1993-1"}],"container-title":["European Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721241237552","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/11206721241237552","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721241237552","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T19:46:14Z","timestamp":1777405574000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/11206721241237552"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,12]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1177\/11206721241237552"],"URL":"https:\/\/doi.org\/10.1177\/11206721241237552","relation":{},"ISSN":["1120-6721","1724-6016"],"issn-type":[{"value":"1120-6721","type":"print"},{"value":"1724-6016","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,12]]}}}