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Pathogenic Variants in RNPC3 Are Associated with Hypopituitarism and Primary Ovarian Insufficiency

Leyla Akin,Karine Rizzoti,Louise C. Gregory,Beatriz Corredor,Polona Le Quesne Stabej,Hywel Williams,Federica Buonocore,Stephane Mouilleron,Valeria Capra,Sinead M. McGlacken-Byrne,Gabriel A. Martos-Moreno,Dimitar N. Azmanov,Mustafa Kendirci,Selim Kurtoglu,Jenifer P. Suntharalingham,Christophe Galichet,Stefano Gustincich,Velibor Tasic,John C. Achermann,Andrea Accogli,Aleksandra Filipovska, Anatoly Tuilpakov,Mohamad Maghnie,Zoran Gucev,Zeynep Burcin Gonen,Luis A. Perez-Jurado,Iain Robinson,Robin Lovell-Badge,Jesus Argente,Mehul T. Dattani

Genetics in Medicine（2021）

Cited 7|Views56
Key words
Hypopituitarism,Minor spliceosome,Primary ovarian insuf fi ciency,U12-type spliceosome,popituitary phenotype,including severe growth hormone (GH) de fi ciency,hypoprolactinemia
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