Mutations in STARD8 (DLC3) may cause 46,XY gonadal dysgenesis

CONCLUSION: Based on these and previous results, it is reasonable to include STARD8 in gene panels for 46,XY gonadal dysgenesis.PMID:38447543 | DOI:10.1159/000537877

Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - March 6, 2024 Category: Genetics & Stem Cells Authors: Dmytro Sirokha Alexey Rayevsky Olexandra Gorodna Vitalii Kalynovskyi Nataliya Zelinska Oksana Samson Krystyna Kwiatkowska Serge Nef Jadwiga Jaruzelska Kamila Kusz-Zamelczyk Ludmila Livshits Source Type: research