日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease

体细胞 USP8 基因突变是儿童库欣病的常见病因

Fabio R Faucz, Amit Tirosh, Christina Tatsi, Annabel Berthon, Laura C Hernández-Ramírez, Nikolaos Settas, Anna Angelousi, Ricardo Correa, Georgios Z Papadakis, Prashant Chittiboina, Martha Quezado, Nathan Pankratz, John Lane, Aggeliki Dimopoulos, James L Mills, Maya Lodish, Constantine A Stratakis

Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease

CABLES1基因功能丧失突变是库欣病的一种新病因。

Laura C Hernández-Ramírez ,Ryhem Gam ,Nuria Valdés ,Maya B Lodish ,Nathan Pankratz ,Aurelio Balsalobre ,Yves Gauthier ,Fabio R Faucz ,Giampaolo Trivellin ,Prashant Chittiboina ,John Lane ,Denise M Kay ,Aggeliki Dimopoulos ,Stephan Gaillard ,Mario Neou ,Jérôme Bertherat ,Guillaume Assié ,Chiara Villa ,James L Mills ,Jacques Drouin ,Constantine A Stratakis