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Research Article: Exploring the clinical complexity of cardio-facio-cutaneous syndrome: insights from a pediatric case series

Date Published: 2024-05-27

Abstract:
Background: Cardio-Facio-Cutaneous syndrome (CFCS) is a rare autosomal dominant genetic disorder primarily caused by BRAF gene mutations, posing diagnostic challenges due to its multifaceted clinical presentation.

Introduction:
Objective: To elucidate the clinical characteristics of pediatric CFCS patients, expanding the phenotypic spectrum to enhance early diagnostic capabilities, while also presenting the relationship between genotye and corresponding phenotype severity.

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