{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T20:24:38Z","timestamp":1774643078315,"version":"3.50.1"},"reference-count":32,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p>Congenital heart diseases (CHDs) are the most common cause of all birth defects and account for nearly 25% of all major congenital anomalies leading to mortality in the first year of life. Extracardiac anomalies including urogenital aberrations are present in \u223c30% of all cases. Here, we present a rare case of a 46,XY patient with CHD associated with ambiguous genitalia consisting of a clitoris-like phallus and a bifid scrotum. Exome sequencing revealed novel homozygous mutations in the &lt;i&gt;FGFR1 &lt;\/i&gt;and&lt;i&gt; STARD3&lt;\/i&gt; genes that may be associated with the phenotype.<\/jats:p>","DOI":"10.1159\/000444948","type":"journal-article","created":{"date-parts":[[2016,4,8]],"date-time":"2016-04-08T11:33:30Z","timestamp":1460115210000},"page":"16-22","source":"Crossref","is-referenced-by-count":12,"title":["Homozygous Mutation of the &lt;b&gt;&lt;i&gt;FGFR1&lt;\/i&gt;&lt;\/b&gt; Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex 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