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Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas.

Morelli ValentinaElli Francesca MartaFrigerio SofiaVena WalterPalmieri SerenaLucca CamillaMaffini Maria AntoniaContarino AndreaBagnaresi FrancescaMantovani GiovannaArosio Maura
Published in: European journal of endocrinology (2023)
In MACS+ BAI patients, germline ARMC5 gene pathogenic variants are frequent. Further studies are needed to elucidate the pathophysiological role of somatic ARMC5 pathogenic variants on adrenal tumor development in otherwise wild-type (WT) patients.
Keyphrases
  • end stage renal disease
  • copy number
  • newly diagnosed
  • chronic kidney disease
  • prognostic factors
  • wild type
  • risk factors
  • gene expression
  • transcription factor
  • patient reported outcomes
  • dna repair