Article
Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update.
The Journal of clinical endocrinology and metabolism - 1 Jan 2021
Armaiz-Pena Gustavo, Flores Shahida K, Cheng Zi-Ming, Zhang Xhingyu, Esquivel Emmanuel, Poullard Natalie, Vaidyanathan Anusha, Liu Qianqian, Michalek Joel, Santillan-Gomez Alfredo A, Liss Michael, Ahmadi Sara, Katselnik Daniel, Maldonado Enrique, Salgado Sarimar Agosto, Jimenez Camilo, Fishbein Lauren, Hamidi Oksana, Else Tobias, Lechan Ron, Tischler Art S, Benn Diana E, Dwight Trisha, Clifton-Bligh Rory, Sanso Gabriela, Barontini Marta, Vincent Deepa, Aronin Neil, Biondi Bernadette, Koops Maureen, Bowhay-Carnes Elizabeth, Gimenez-Roqueplo Anne-Paule, Alvarez-Eslava Andrea, Bruder Jan M, Kitano Mio, Burnichon Nelly, Ding Yanli, Dahia Patricia L M
Abstract excerpt
PURPOSE: This work aimed to evaluate genotype-phenotype associations in individuals carrying germline variants of transmembrane protein 127 gene (TMEM127), a poorly known gene that confers susceptibility to pheochromocytoma (PHEO) and paraganglioma (PGL). DESIGN: Data were collected from a registry of probands with TMEM127 variants, published reports, and public databases. MAIN OUTCOME ANALYSIS: Clinical,...
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