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Article

Whole genome sequencing of apparently mutation-negative MEN1 patients.

European journal of endocrinology - 1 Jan 2020

Backman Samuel, Bajic Duska, Crona Joakim, Hellman Per, Skogseid Britt, Stålberg Peter

Abstract excerpt

OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome usually caused by loss-of-function mutations in the MEN1 gene. However, a minority of patients who fulfill the criteria for MEN1 are not found to harbor MEN1 mutations. Besides, some of these individuals, present with a subtly different phenotype suggestive of sporadic disease. The aim of the present study was to investigate...

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Source

Identifiers

PMID: 31658439
DOI: 10.1530/EJE-19-0522

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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