Browsing by Author "Karademir, Betül"
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PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans
Güran, Tülay; Yeşil, Gözde; Turan, Serap; Atay, Zeynep; Bozkurtlar, Emine; Aghayev, AghaRza; Gül, Sinem; Tinay, İlker; Aru, Başak; Arslan, Sema; Köroğlu, Mustafa Kutay; Ercan, Feriha; Yanıkkaya Demirel, Gülderen; Tanay Eren, Funda; Karademir, Betül; Bereket, Abdullah (Bioscientifica Ltd, 2019)Context: Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis ...