Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Akin L, Rizzoti K, Gregory LC, Corredor B, Le Quesne Stabej P, Williams H, Buonocore F, Mouilleron S, Capra V, McGlacken-Byrne SM, Martos-Moreno GÁ, Azmanov DN, Kendirci M, Kurtoglu S, Suntharalingham JP, Galichet C, Gustincich S, Tasic V, Achermann JC, Accogli A, Filipovska A, Tuilpakov A, Maghnie M, Gucev Z, Gonen ZB, Pérez-Jurado LA, Robinson I, Lovell-Badge R, Argente J, Dattani MT.
Akin L, et al. Among authors: mouilleron s.
Genet Med. 2022 Feb;24(2):384-397. doi: 10.1016/j.gim.2021.09.019. Epub 2021 Nov 30.
Genet Med. 2022.
PMID: 34906446
Free PMC article.