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Article

De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy.

Human genetics - 1 Aug 2016

Long Pamela A, Zimmermann Michael T, Kim Maengjo, Evans Jared M, Xu Xiaolei, Olson Timothy M

Abstract excerpt

Idiopathic dilated cardiomyopathy (DCM) is a heritable, genetically heterogeneous disorder with variable age-dependent penetrance. We sought to identify the genetic underpinnings of syndromic, sporadic DCM in a newborn female diagnosed in utero. Postnatal evaluation revealed ventricular dilation and systolic dysfunction, bilateral cataracts, and mild facial dysmorphisms. Comprehensive metabolic and genetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27234373
DOI: 10.1007/s00439-016-1685-3
PMCID: PMC4947566

Genes

RRAGC

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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