{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T21:31:52Z","timestamp":1740173512173,"version":"3.37.3"},"reference-count":0,"publisher":"Endocrinology Research Centre","issue":"6","license":[{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.probl-endojournals.ru\/jour\/about\/editorialPolicies#openAccessPolicy"}],"content-domain":{"domain":["www.probl-endojournals.ru"],"crossmark-restriction":true},"short-container-title":["Probl Endokrinol (Mosk)"],"abstract":"<jats:p>n the article some corrections were needed. Abstract: \u201cHeterozygous SF1 variants were found in 36 out of 310 (11.6%) of cases, among them 15 were not previously described\u201d. has been corrected to read \u201cHeterozygous SF1 variants were found in 36 out of 310 (11.6%) of cases, among them 22 were not previously described\u201d. Results: \u201cHeterozygous SF1 variants were found in 36 out of 310 (11.6%) of cases, among them 15 were not previously described\u201d, has been corrected to read \u201cHeterozygous SF1 variants were found in 36 out of 310 (11.6%) of cases, among them 22 were not previously described\u201d. Among the newly identified variants in the NR1A1 gene, two lead to the premature stop codon -p. Y197X and p. Y25X, two lead to a shift in the reading frame-p. N385fs and p. L245fs, which does not allow us to doubt their pathogenicityAmong the previously undescribed variant changes, 5 missense mutations (p. C283Y, p. C283B, p.H24Q, p.M126K, p.E81K) and 1\u00a0 synonymous substitution affecting the splicing site (E330E) were evaluated as pathogenic, and 5 others as probably pathogenic.<\/jats:p><jats:p>Has been corrected to read: Among the newly identified variants in the NR1A1 gene, two lead to the premature stop codon\u00a0-p. Y197X and p. Y25X, two lead to a shift in the reading frame \u2014 p.N385SfsX10 and p.L245AfsX53, which does not allow us to doubt their pathogenicity Among the previously undescribed variants, 5 missense mutations (p.C283Y, p.\u0421283F, p.H24Q, p.M126K, p.A82T) and 1 synonymous substitution affecting the splicing site (E330E) were predicted as pathogenic, and 5 others as probably pathogenic by calculating pathogenicity. The authors apologize for these errors.<\/jats:p><jats:p>\u00a0<\/jats:p>","DOI":"10.14341\/probl12848","type":"journal-article","created":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T09:11:47Z","timestamp":1641978707000},"page":"124-126","update-policy":"https:\/\/doi.org\/10.14341\/crossmarkpolicy2018","source":"Crossref","is-referenced-by-count":0,"title":["Erratum: clinical and molecular characteristics of patients with 46,xy dsd due to nr5a1 gene mutations (Probl Endokrinol (Mosk). 2020 Sep 16;66(3):62-69. Russian. doi: 10.14341\/probl12445)"],"prefix":"10.14341","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2000-7694","authenticated-orcid":true,"given":"N. Yu.","family":"Kalinchenko","sequence":"first","affiliation":[{"name":"Endocrinology Research Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7736-5372","authenticated-orcid":true,"given":"A. A.","family":"Kolodkina","sequence":"additional","affiliation":[{"name":"Endocrinology Reserch Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0361-5329","authenticated-orcid":true,"given":"N. Yu.","family":"Raygorodskaya","sequence":"additional","affiliation":[{"name":"Saratov State Medical University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8500-4841","authenticated-orcid":true,"given":"A. N.","family":"Tiulpakov","sequence":"additional","affiliation":[{"name":"Endocrinology Reserch Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5458","published-online":{"date-parts":[[2021,12,1]]},"container-title":["Problems of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/www.probl-endojournals.ru\/jour\/article\/viewFile\/12848\/10022","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,1,12]],"date-time":"2022-01-12T09:12:09Z","timestamp":1641978729000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.probl-endojournals.ru\/jour\/article\/view\/12848"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,1]]},"references-count":0,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022,1,7]]}},"URL":"https:\/\/doi.org\/10.14341\/probl12848","relation":{},"ISSN":["2308-1430","0375-9660"],"issn-type":[{"type":"electronic","value":"2308-1430"},{"type":"print","value":"0375-9660"}],"subject":[],"published":{"date-parts":[[2021,12,1]]}}}