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Article

[A family with a congenital DICER1 mutation].

Ugeskrift for laeger - 18 Jun 2018

Altaraihi Mays, Pedersen Jens, Rossing Maria, Gedes Anne-Marie, Wadt Karin

Abstract excerpt

Germ line DICER1 mutations predispose to a syndrome associated with increased risk of e.g. multinodular goitre (MNG), pleuropulmonary blastoma and Sertoli-Leydig cell tumour (SLCT). This is a case report about a family with a nonsense DICER1 mutation, c.988C>T, affecting six family members. The proband had once undergone a unilateral oophorectomy and a thyroidectomy due to SLCT and MNG, respectively. The proband...

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Source

Identifiers

PMID: 29938629

Genes

DICER1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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