{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:36:24Z","timestamp":1790472984030,"version":"4.1.0"},"reference-count":37,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2010]]},"abstract":"<jats:p>We report a female patient with delayed growth and development, skeletal and cardiac defects, and a male XY sex chromosome complement with early failure of gonad development. &lt;i&gt;SRY&lt;\/i&gt; sequencing was normal. Array comparative genome hybridization (CGH) analysis revealed a gain in copy number in the subtelomeric region of the short arm of chromosome 16, encompassing a region of approximately 560 kb in size including &lt;i&gt;GNG13&lt;\/i&gt; which may be involved in ovarian development. The proximal breakpoint of the duplication maps about 18 kb upstream of &lt;i&gt;SOX8 &lt;\/i&gt;and involves evolutionary conserved regulatory elements. &lt;i&gt;SOX8&lt;\/i&gt;, like &lt;i&gt;SOX9&lt;\/i&gt;, is a transcription factor expressed in many tissues, including neural crest, nervous system, muscle, cartilage, adrenal gland, kidney, and testis. There was no increase in &lt;i&gt;GNG13&lt;\/i&gt; or &lt;i&gt;SOX8&lt;\/i&gt; expression in the patient\u2019s lymphoblastoid line. It is possible that an alteration of &lt;i&gt;SOX8&lt;\/i&gt; or\/and &lt;i&gt;GNG13 &lt;\/i&gt;expression is responsible for the multiple congenital anomalies and sex reversal in our patient.<\/jats:p>","DOI":"10.1159\/000321957","type":"journal-article","created":{"date-parts":[[2011,1,10]],"date-time":"2011-01-10T10:40:53Z","timestamp":1294656053000},"page":"185-191","source":"Crossref","is-referenced-by-count":18,"title":["A Case of Agonadism, Skeletal Malformations, Bicuspid Aortic Valve, and Delayed Development with a 16p13.3 Duplication Including &lt;i&gt;GNG13 &lt;\/i&gt;and &lt;i&gt;SOX8&lt;\/i&gt; Upstream Enhancers: Are Either, Both or Neither Involved in the 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