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Article

MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations.

The Journal of clinical endocrinology and metabolism - 14 Jul 2022

Seabrook Amanda, Wijewardene Ayanthi, De Sousa Sunita, Wong Tang, Sheriff Nisa, Gill Anthony J, Iyer Rakesh, Field Michael, Luxford Catherine, Clifton-Bligh Roderick, McCormack Ann, Tucker Katherine

Abstract excerpt

CONTEXT: Germline CDKN1B pathogenic variants result in multiple endocrine neoplasia type 4 (MEN4), an autosomal dominant hereditary tumor syndrome variably associated with primary hyperparathyroidism, pituitary adenoma, and duodenopancreatic neuroendocrine tumors. OBJECTIVE: To report the phenotype of 3 unrelated cases each with a unique germline CDKN1B variant (of which 2 are novel) and compare these cases with...

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Identifiers

PMID: 35323929
DOI: 10.1210/clinem/dgac162
PMCID: PMC9282358

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MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations.PMID 35323929Read ↗

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