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Article

Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.

European journal of human genetics : EJHG - 1 Mar 2015

Justino Ana, Dias Patrícia, João Pina Maria, Sousa Sónia, Cirnes Luís, Berta Sousa Ana, Carlos Machado José, Costa José Luis

Abstract excerpt

Variants in 11 genes of the RAS/MAPK signaling pathway have been causally linked to the neuro-cardio-facio-cutaneous syndromes group (NCFCS). Recently, A2ML1 and RIT1 were also associated with these syndromes. Because of the genetic and clinical heterogeneity of NCFCS, it is challenging to define strategies for their molecular diagnosis. The aim of this study was to develop and validate a massive parallel...

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Identifiers

PMID: 24896146
DOI: 10.1038/ejhg.2014.97
PMCID: PMC4326724

Genes

RIT1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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