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Mutations in STARD8 (DLC3) may cause 46,XY gonadal dysgenesis.
Sirokha D, Rayevsky A, Gorodna O, Kalynovskyi V, Zelinska N, Samson O, Kwiatkowska K, Nef S, Jaruzelska J, Kusz-Zamelczyk K, Livshits L. Sirokha D, et al. Sex Dev. 2024 Mar 6. doi: 10.1159/000537877. Online ahead of print. Sex Dev. 2024. PMID: 38447543
A conserved function of Human DLC3 and Drosophila Cv-c in testis development.
Sotillos S, von der Decken I, Domenech Mercadé I, Srinivasan S, Sirokha D, Livshits L, Vanni S, Nef S, Biason-Lauber A, Rodríguez Gutiérrez D, Castelli-Gair Hombría J. Sotillos S, et al. Among authors: sirokha d. Elife. 2022 Nov 3;11:e82343. doi: 10.7554/eLife.82343. Elife. 2022. PMID: 36326091 Free PMC article.