〇ARMC5の両アレル変異を認めた髄膜腫の一例

Molecular and clinical evidence for an ARMC5 tumor syndrome: concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma. J Clin Endocrinol Metab. 2014/9/19

PBMAHの家系において、ARMC5の胚細胞変異と体細胞変異を認める髄膜腫の一例を報告した。