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Case Report: Novel SIN3A Loss-of-function Variant As Causative for Hypogonadotropic Hypogonadism in Witteveen–Kolk Syndrome

Lourdes Correa Brito,Ana Keselman,Florencia Villegas,Paula Scaglia,Maria Esnaola Azcoiti,Sebastian Castro,Nora Sanguineti,Agustin Izquierdo, Marianela Maier,Ignacio Bergada,Claudia Arberas,Rodolfo A. Rey,Maria Gabriela Ropelato

FRONTIERS IN GENETICS（2024）

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关键词
hypogonadotropic hypogonadism,Kallmann syndrome,SIN3A gene,Witteveen-Kolk syndrome,whole-exome sequencing,case report
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