An Unusual Presentation of Cardiofaciocutaneous Syndrome Diagnosed Through Whole Genome Sequencing: A Case Report

Cardiofaciocutaneous syndrome is a rare, sporadic disease caused by germline mutations in the Ras/MAPK (mitogen-activated protein kinase) pathway. Patients usually present with craniofacial anomalies, cardiac defects, and neurocutaneous abnormalities. The features of cardiofaciocutaneous syndrome ov...

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Detalles Bibliográficos
Autores principales: Alhalak, Rouzy, Al-Haideri, Mohammed H, Khan, Arif
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10022705/
https://www.ncbi.nlm.nih.gov/pubmed/36938251
http://dx.doi.org/10.7759/cureus.35021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10022705/
https://www.ncbi.nlm.nih.gov/pubmed/36938251
http://dx.doi.org/10.7759/cureus.35021

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