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

PURPOSE: We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with POI. METHODS: We used NGS to identify variants in all pedigrees. Expression of Rnpc3/RNPC3 was analysed by in situ hybridization on murine/human embryonic sections. Crispr/Cas9...

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Autores principales: 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, Z. Burcin, Pérez-Jurado, Luis A, Robinson, Iain, Badge, Robin Lovell, Argente, Jesús, Dattani, Mehul T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7612377/
https://www.ncbi.nlm.nih.gov/pubmed/34906446
http://dx.doi.org/10.1016/j.gim.2021.09.019

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