The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.

BRAF mutation CFC Cardiofaciocutaneous syndrome KRAS mutation MEK1 mutation MEK2 mutation RASopathies hypertrophic cardiomyopathy neurodevelopment

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
22 Nov 2023
Historique:
received: 09 10 2023
revised: 16 11 2023
accepted: 21 11 2023
medline: 23 12 2023
pubmed: 23 12 2023
entrez: 23 12 2023
Statut: epublish

Résumé

Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe ocular, gastrointestinal and neurological involvement. It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes

Identifiants

DOI: 10.3390/genes14122111 PMID: 38136934
pubmed: 38136934
pii: genes14122111
doi: 10.3390/genes14122111
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Auteurs

Giovanna Scorrano (G)

Department of Pediatrics, "G. D'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.

Emanuele David (E)

Department of Translational and Precision Medicine, "Sapienza" University of Rome, 00161 Rome, Italy.

Elisa Calì (E)

UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
ORCID: 0000-0001-9826-4490

Roberto Chimenz (R)

Pediatric Nephrology and Dialysis Unit, University Hospital "G. Martino", 98124 Messina, Italy.

Saverio La Bella (S)

Department of Pediatrics, "G. D'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.
ORCID: 0000-0002-1244-0789

Armando Di Ludovico (A)

Department of Pediatrics, "G. D'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.
ORCID: 0000-0002-2644-1475

Gabriella Di Rosa (G)

Child Neuropsychiatry Unit, Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, 98124 Messina, Italy.

Eloisa Gitto (E)

Neonatal and Pediatric Intensive Care Unit, Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi", University of Messina, 98122 Messina, Italy.

Kshitij Mankad (K)

Department of Radiology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.

Rosaria Nardello (R)

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities, "G. D'Alessandro" University of Palermo, 90127 Palermo, Italy.

Giuseppe Donato Mangano (GD)

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities, "G. D'Alessandro" University of Palermo, 90127 Palermo, Italy.
ORCID: 0000-0001-6541-3170

Chiara Leoni (C)

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
ORCID: 0000-0002-4089-637X

Giorgia Ceravolo (G)

UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.

Classifications MeSH