Article
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.
Clinical genetics - 1 Feb 2022
Altunoglu Umut, Börklü Esra, Shukla Anju, Escande-Beillard Nathalie, Ledig Susanne, Azaklı Hülya, Nayak Shalini S, Eraslan Serpil, Girisha Katta Mohan, Kennerknecht Ingo, Kayserili Hülya
Abstract excerpt
Homozygous variants in PPP2R3C have been reported to cause a syndromic 46,XY complete gonadal dysgenesis phenotype with extragonadal manifestations (GDRM, MIM# 618419) in patients from four unrelated families, whereas heterozygous variants have been linked to reduced fertility with teratozoospermia (SPGF36, MIM# 618420) in male carriers. We present eight patients from four unrelated families of Turkish and Indian...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.