DLG2 variants in patients with pubertal disorders.
Youn Hee JeeSehoon WonJulian C LuiMelissa JenningsPhilip WhalenShanna YueAdrian G TemnyckyKevin M BarnesTim CheethamMatthew G BodenSally RadovickRichard QuintonEllen W LeschekGreti AguileraJack A YanovskiStephanie B SeminaraWilliam F CrowleyAngela DelaneyKatherine W RocheJeffrey BaronPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
The findings indicate that variants in DLG2/PSD-93 cause autosomal dominant delayed puberty and may also contribute to IHH. The findings also suggest that the pathogenesis involves impaired NMDA receptor signaling and consequently decreased GnRH secretion.
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