Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion - Trivellin, Giampaolo; Daly, Adrian F.; Hernández-Ramírez, Laura C.; Araldi, Elisa; Tatsi, Christina; Dale, Ryan K.; Fridell, Gus; Mittal, Arjun; Faucz, Fabio R.; Iben, James R.; Li, Tianwei; Vitali, Eleonora; et al. (Frontiers in endocrinology (Lausanne), 2023)
Keywords: acromegaly; amidation; Child; Cushing disease; DNA Copy Number Variations; Endocrinologie, métabolisme & nutrition; Endocrinology; Endocrinology, metabolism & nutrition; gigantism; Human health and pathology; Human health sciences; Humans; Life Sciences; Mixed Function Oxygenases; peptidylglycine α-amidating monooxygenase; Pituitary Diseases; Pituitary Gland; Pituitary Neoplasms - genetics; pituitary tumors; Sciences de la santé humaine; amidation; gigantism; peptidylglycine α-amidating monooxygenase; acromegaly; Cushing disease; pituitary tumors; peptidylglycine a-amidating monooxygenase amidation gigantism acromegaly Cushing disease pituitary tumors; peptidylglycine a-amidating monooxygenase