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Page 1
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.
Settas N, Persky R, Faucz FR, Sheanon N, Voutetakis A, Lodish M, Metherell LA, Stratakis CA. Settas N, et al. J Clin Endocrinol Metab. 2019 May 1;104(5):1484-1490. doi: 10.1210/jc.2018-02238. J Clin Endocrinol Metab. 2019. PMID: 30517686 Free PMC article.
Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.
Faucz FR, Tirosh A, Tatsi C, Berthon A, Hernández-Ramírez LC, Settas N, Angelousi A, Correa R, Papadakis GZ, Chittiboina P, Quezado M, Pankratz N, Lane J, Dimopoulos A, Mills JL, Lodish M, Stratakis CA. Faucz FR, et al. Among authors: settas n. J Clin Endocrinol Metab. 2017 Aug 1;102(8):2836-2843. doi: 10.1210/jc.2017-00161. J Clin Endocrinol Metab. 2017. PMID: 28505279 Free PMC article.
Correction: Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome.
Drougat L, Settas N, Ronchi CL, Bathon K, Calebiro D, Maria AG, Haydar S, Voutetakis A, London E, Faucz FR, Stratakis CA. Drougat L, et al. Among authors: settas n. Genet Med. 2021 Jan;23(1):239. doi: 10.1038/s41436-020-01018-4. Genet Med. 2021. PMID: 33082560 Free article. No abstract available.
20 results