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Article

Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries.

Congenital heart disease - 1 May 2018

Sabbaghian Nelly, Digilio Maria C, Blue Gillian M, Revil Timothée, Winlaw David S, Foulkes William D

Abstract excerpt

OBJECTIVE: We previously identified a pathogenic germline DICER1 variant in a child with transposition of the great arteries who was a member of a family with DICER1 syndrome. In view of a report linking Dicer1 knockout in murine cardiomyocytes to cardiac outflow defects, we investigated the involvement of DICER1 in transposition of the great arteries. DESIGN: We used Fluidigm access array followed by next...

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Source

Identifiers

PMID: 29399970
DOI: 10.1111/chd.12578

Genes

DICER1

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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