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ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia.
Alencar GA, Lerario AM, Nishi MY, Mariani BM, Almeida MQ, Tremblay J, Hamet P, Bourdeau I, Zerbini MC, Pereira MA, Gomes GC, Rocha Mde S, Chambo JL, Lacroix A, Mendonca BB, Fragoso MC. Alencar GA, et al. J Clin Endocrinol Metab. 2014 Aug;99(8):E1501-9. doi: 10.1210/jc.2013-4237. Epub 2014 Apr 7. J Clin Endocrinol Metab. 2014. PMID: 24708098
Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation.
Ferreira AM, Brondani VB, Helena VP, Charchar HLS, Zerbini MCN, Leite LAS, Hoff AO, Latronico AC, Mendonca BB, Diz MDPE, de Almeida MQ, Fragoso MCBV. Ferreira AM, et al. Among authors: fragoso mcbv. J Steroid Biochem Mol Biol. 2019 Jun;190:250-255. doi: 10.1016/j.jsbmb.2019.04.011. Epub 2019 Apr 8. J Steroid Biochem Mol Biol. 2019. PMID: 30974190
136 results