{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T05:11:55Z","timestamp":1778562715347,"version":"3.51.4"},"reference-count":30,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T00:00:00Z","timestamp":1778544000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012190","name":"Ministry of Science and Higher Education of the Russian Federation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012190","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>\n                    This article presents the first reported familial case of 17q12 recurrent deletion syndrome in Russia, involving a female patient with diabetes and her daughter diagnosed with atypical autism without intellectual disability. A comprehensive analysis of the molecular genetic features and intrafamilial variability of clinical manifestations was performed. In addition, clinical, laboratory, and instrumental findings were compared with those observed in a classical case of maturity-onset diabetes of the young type 5 (MODY5). Furthermore, the disease course associated with other genetic alterations affecting the 17q12 region, including 17q12 microduplications and various pathogenic variants of the\n                    <jats:italic>HNF1B<\/jats:italic>\n                    gene, was comparatively evaluated. Given the orphan nature of this condition, the present report adds to the limited existing data on the clinical and genetic characteristics of 17q12 recurrent deletion syndrome.\n                  <\/jats:p>","DOI":"10.3389\/fendo.2026.1819047","type":"journal-article","created":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T04:29:25Z","timestamp":1778560165000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization"],"prefix":"10.3389","volume":"17","author":[{"given":"Yaroslav V.","family":"Dvoryanchikov","sequence":"first","affiliation":[{"name":"Endocrinology Research Centre","place":["Moscow, Russia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita I.","family":"Khusainova","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre","place":["Moscow, Russia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ildar R.","family":"Minniakhmetov","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre","place":["Moscow, Russia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramil R.","family":"Salakhov","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre","place":["Moscow, Russia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirill V.","family":"Smirnov","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre","place":["Moscow, Russia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saida A.","family":"Ibragimova","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre","place":["Moscow, Russia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan I.","family":"Golodnikov","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre","place":["Moscow, Russia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena A.","family":"Sechko","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre","place":["Moscow, Russia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekaterina A.","family":"Dobreva","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre","place":["Moscow, Russia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia G.","family":"Mokrysheva","sequence":"additional","affiliation":[{"name":"Endocrinology Research Centre","place":["Moscow, Russia"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,5,12]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.1660-23","article-title":"Japanese 17q12 deletion syndrome with complex clinical 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