Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C
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DOI: 10.1530/eje-21-0910
Abstract: Context Homozygous and heterozygous variants in PPP2R3C are associated with syndromic 46,XY complete gonadal dysgenesis (Myo-Ectodermo-Gonadal Dysgenesis (MEGD) syndrome), and impaired spermatogenesis, respectively. This study expands the role of PPP2R3C in the aetiology of gonadal… read more here.
Keywords: spectrum gonadal; ppp2r3c; gonadal dysgenesis; variant ... See more keywords