{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T02:26:01Z","timestamp":1766975161300,"version":"3.48.0"},"reference-count":10,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,7,18]],"date-time":"2025-07-18T00:00:00Z","timestamp":1752796800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Intellectual developmental disorder, autosomal recessive 60 (MRT60, #617432) is an ultrarare genetic disorder characterized by microcephaly, intellectual disability, growth retardation, seizure, and central nervous system abnormalities. The disease is caused by biallelic variants in the TATA box\u2010binding protein\u2010associated factor gene (\n                    <jats:italic>TAF13<\/jats:italic>\n                    ) gene. To date, only four patients with MRT60 have been reported in the literature. In this study, two new patients were presented, exhibiting similar phenotypic features including microcephaly, intellectual disability, and prominent growth retardation. Whole exome analysis revealed a pathogenic variant (c.119T&gt;A p.Met40Lys) in the\n                    <jats:italic>TAF13<\/jats:italic>\n                    gene. The 46,XY disorder of sex development was only present in the current patients and is a new finding for this ultrarare disorder. Since\n                    <jats:italic>TAF13<\/jats:italic>\n                    plays a role in transcriptional regulation, it is believed to potentially cause gonadal dysfunction. To obtain a better understanding of this disorder, it is essential to conduct comprehensive functional studies that can provide deeper insights into the underlying mechanisms.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64183","type":"journal-article","created":{"date-parts":[[2025,7,18]],"date-time":"2025-07-18T13:11:01Z","timestamp":1752844261000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Two New Families With\n                    <scp>\n                      <i>TAF13<\/i>\n                    <\/scp>\n                    Variant Presenting With Syndromic 46,\n                    <scp>XY<\/scp>\n                    Disorder of Sex Development: Expanding the Clinical Phenotype"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7716-6661","authenticated-orcid":false,"given":"Hasan","family":"Ar\u0131","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology, Ankara Etlik City Children's Hospital University of Health Sciences  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9647-8970","authenticated-orcid":false,"given":"Ayberk","family":"T\u00fcrky\u0131lmaz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Karadeniz Technical University  Trabzon Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-3814-564X","authenticated-orcid":false,"given":"Ay\u015fe Burcu","family":"Do\u011fan Ar\u0131","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, Ankara Bilkent City Children's Hospital University of Health Sciences  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0553-7072","authenticated-orcid":false,"given":"Hakan","family":"Karde\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Faculty of Medicine Karadeniz Technical University  Trabzon Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3886-3808","authenticated-orcid":false,"given":"Abdullah","family":"Sezer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ankara Etlik City Hospital  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7866-9228","authenticated-orcid":false,"given":"Emine Ay\u00e7a","family":"Cimbek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Faculty of Medicine Karadeniz Technical University  Trabzon 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Journal of Medical Genetics Part 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