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Article

Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.

American journal of medical genetics. Part A - 1 Nov 2023

Crincoli Emanuele, Leoni Chiara, Viscogliosi Germana, Onesimo Roberta, Mattei Roberta, Tartaglia Marco, Catania Fiammetta, Rizzo Stanislao, Zampino Giuseppe, Salerni Annabella

Abstract excerpt

Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder belonging to the RASopathies, a group of developmental syndromes caused by upregulated RAS/MAPK signaling. Pathogenic variants affecting four genes, KRAS, BRAF, MAP2K1 and MAP2K2, encoding core signal transducers of the pathway, underlie the condition. Major clinical features include a distinctive facies, ectodermal and cardiac anomalies, reduced...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Proto-Oncogene Proteins B-raf

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Source

Identifiers

PMID: 37697822
DOI: 10.1002/ajmg.a.63395

Genes

BRAF
KRAS
MAP2K1
MAP2K2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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