Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.

doi:10.1016/j.gim.2021.09.019

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Article

Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2022

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

Abstract excerpt

PURPOSE: We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency. METHODS: We used next-generation sequencing to identify variants in all pedigrees. Expression of Rnpc3/RNPC3 was analyzed by in situ hybridization on murine/human embryonic sections. CRISPR/Cas9 was used to generate mice carrying the p.Leu483Phe pathogenic...

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PMID: 34906446
DOI: 10.1016/j.gim.2021.09.019
PMCID: PMC7612377

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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