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Article

ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome.

Journal of medical genetics - 1 Jul 2014

Venturin Marco, Carra Silvia, Gaudenzi Germano, Brunelli Silvia, Gallo Guido Roberto, Moncini Silvia, Cotelli Franco, Riva Paola

Abstract excerpt

BACKGROUND: Cardiovascular malformations have a higher incidence in patients with NF1 microdeletion syndrome compared to NF1 patients with intragenic mutation, presumably owing to haploinsufficiency of one or more genes included in the deletion interval and involved in heart development. In order to identify which genes could be responsible for cardiovascular malformations in the deleted patients, we carried out...

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Source

Identifiers

PMID: 24711647
DOI: 10.1136/jmedgenet-2013-102240

Genes

ADAP2
SUZ12
UTP6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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