Article

Germline loss-of-function<i>PAM</i>variants are enriched in subjects with pituitary hypersecretion

2023-01-20

Abstract excerpt

Pituitary adenomas (PAs) are common, usually benign tumors of the anterior pituitary gland which, for the most part, have no known genetic cause. PAs are associated with major clinical effects due to hormonal dysregulation and tumoral impingement on vital brain structures. Following the identification of a loss-of-function variant (p.Arg703Gln) in the PAM gene in a family with pituitary gigantism, we investigated...

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Literature Corpus work: cc942185-1074-54e1-aaac-103a42364be7
DOI: 10.1101/2023.01.20.23284646

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