Disease: Cardiofaciocutaneous syndrome
- A Case Report of Cardiofaciocutaneous Syndrome with <em>MAP2K1</em> Pathogenic Variant
- A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant
- A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant [Letter]
- An Unusual Presentation of Cardiofaciocutaneous Syndrome Diagnosed Through Whole Genome Sequencing: A Case Report
- Analysis of the Oral Microbiome in a Patient with Cardiofaciocutaneous Syndrome and Severe Periodontal Disease: Impact of Systemic Antibiotic Therapy
- Bone health in RASopathies
- Cardiofaciocutaneous Syndrome
- Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome
- Central nervous system involvement in individuals with RASopathies
- Clinical overview on RASopathies
- Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients
- Dermatological manifestations, management, and care in RASopathies
- Dermoscopic Features of Melanocytic Nevi in Cardiofaciocutaneous and Costello Syndromes
- Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia
- Endocrine system involvement in patients with RASopathies: A case series
- Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication
- Evolutionary history of MEK1 illuminates the nature of deleterious mutations
- Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment
- Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype
- Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report
- Management of nutritional and gastrointestinal issues in RASopathies: A narrative review
- MEK Inhibition for RASopathy-Associated Hypertrophic Cardiomyopathy: Clinical Application of a Basic Concept
- Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients
- Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy
- New prospectives on treatment opportunities in RASopathies
- Novel Use of Intranasal Dexmedetomidine for Refractory Irritability in Pediatric Home Care
- Phenotypic Features in a New 12q21 Deletion and Its Association With Cardiofaciocutaneous Syndrome
- Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies
- RASopathies for Radiologists
- Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes
- Small molecule inhibition for RASopathy-associated hypertrophic cardiomyopathy: Clinical application of a basic concept
- Spontaneous haemopericardium due to vitamin K deficiency in an adult patient with cardiofaciocutaneous syndrome
- Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology
- The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome
- The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications
- Treatment of Refractory Epilepsy With MEK Inhibitor in Patients With RASopathy
- Whole exome sequencing based identification of a case of cardiofaciocutaneous syndrome type 3: the benefits of new sequencing technology in children with neurodevelopmental delay