{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T12:57:43Z","timestamp":1791982663068,"version":"4.4.0"},"reference-count":31,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,3,21]],"date-time":"2023-03-21T00:00:00Z","timestamp":1679356800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009409","name":"Russian Science Support Foundation","doi-asserted-by":"publisher","award":["FSRG\u20102020\u20100014"],"award-info":[{"award-number":["FSRG\u20102020\u20100014"]}],"id":[{"id":"10.13039\/100009409","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Since the first report of SOPH syndrome among the Yakut population in 2010, new clinical data of SOPH\u2010like conditions continue to appear. We expand the phenotypic spectrum of SOPH syndrome and perform a comparative analysis of Yakut SOPH patients' clinical data with SOPH\u2010like conditions reported in the world scientific literature to form a foundation for\n                    <jats:italic>NBAS<\/jats:italic>\n                    pathogenesis discussion. Clinical data from the genetic records of 93 patients with SOPH syndrome and global survey data on patients with pathogenic variants of the C\u2010terminal in the\n                    <jats:italic>NBAS<\/jats:italic>\n                    gene were collected. A detailed phenotype description of patients is presented with a total number of 111 individuals. Underweight below the fifth centile and prone to delayed bone age in Yakut SOPH patients are retrospectively observed. We outline the short stature with optic atrophy as the leading phenotyping trait for C\u2010terminal\n                    <jats:italic>NBAS<\/jats:italic>\n                    patients. The pathophysiology and patients management of SOPH\u2010like conditions are discussed.\n                  <\/jats:p>","DOI":"10.1111\/cge.14319","type":"journal-article","created":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T02:54:23Z","timestamp":1677466463000},"page":"625-635","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Origins of\n                    <scp>SOPH<\/scp>\n                    syndrome: A study of 93 Yakut patients with review of C\u2010terminal phenotype"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1107-0384","authenticated-orcid":false,"given":"Leonid","family":"Zhozhikov","sequence":"first","affiliation":[{"name":"Research Laboratory of \u201cMolecular Medicine and Human Genetics\u201d Institute of Medicine, North\u2010Eastern Federal University  Yakutsk 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and Human Genetics\u201d Institute of Medicine, North\u2010Eastern Federal University  Yakutsk Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0315-852X","authenticated-orcid":false,"given":"Filipp","family":"Vasilev","sequence":"additional","affiliation":[{"name":"Research Laboratory of \u201cMolecular Medicine and Human Genetics\u201d Institute of Medicine, North\u2010Eastern Federal University  Yakutsk Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8258-7452","authenticated-orcid":false,"given":"Nadezhda","family":"Maksimova","sequence":"additional","affiliation":[{"name":"Research Laboratory of \u201cMolecular Medicine and Human Genetics\u201d Institute of Medicine, North\u2010Eastern Federal University  Yakutsk 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