Cardiofaciocutaneous Syndrome Latest Advances

Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.

Journal: Clinical genetics

Published: December 27, 2025

Cardiofaciocutaneous syndrome type 4: A comprehensive review of the MAP2K2-related clinical features, diagnostics, and management.

Journal: Advances in clinical and experimental medicine : official organ Wroclaw Medical University

Published: December 20, 2025

Focal dermal hypoplasia with clinical features mimicking classic hypohidrotic ectodermal dysplasia and cardiofaciocutaneous syndrome.

Journal: European journal of dermatology : EJD

Published: November 24, 2025

Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement.

Journal: Clinical case reports

Published: October 16, 2025

Generation of three induced pluripotent stem cell clones from a functional single ventricle patient carrying the BRAF c.1897 T > C variant.

Journal: Stem cell research

Published: September 22, 2025

Combined Immunodeficiency Associated With MAP2K1 p.Tyr130His Variant in Cardiofaciocutaneous Syndrome: A Case Report With Literature-Based Phenotypic Comparison.

Journal: Scandinavian journal of immunology

Published: August 26, 2025

Cardio-facial-cutaneous syndrome mitral valve prolapse: a rare association.

Journal: Cardiology in the young

Published: August 01, 2025

Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: July 22, 2025

A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights.

Journal: Human mutation

Published: July 08, 2025

Occipital Extracranial Dermoid Cyst in a Neonate With Cardiofaciocutaneous Syndrome Type 4 (CFC4): A Case Report.

Journal: Clinical case reports

Published: July 08, 2025

Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathies.

Journal: Therapeutic advances in rare disease

Published: July 02, 2025

Role of Histopathology of Skin Lesions in Diagnosing MAP2K1-Positive Cardiofaciocutaneous Syndrome.

Journal: The American Journal of dermatopathology

Published: June 26, 2025

Cardiofaciocutaneous Syndrome Latest Advances

Find the Latest Research About Cardiofaciocutaneous Syndrome

Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.

Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases.

Cardiofaciocutaneous syndrome type 4: A comprehensive review of the MAP2K2-related clinical features, diagnostics, and management.

Cardiofaciocutaneous syndrome type 4: A comprehensive review of the MAP2K2-related clinical features, diagnostics, and management.

Focal dermal hypoplasia with clinical features mimicking classic hypohidrotic ectodermal dysplasia and cardiofaciocutaneous syndrome.

Focal dermal hypoplasia with clinical features mimicking classic hypohidrotic ectodermal dysplasia and cardiofaciocutaneous syndrome.

Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement.

Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement.

Generation of three induced pluripotent stem cell clones from a functional single ventricle patient carrying the BRAF c.1897 T > C variant.

Generation of three induced pluripotent stem cell clones from a functional single ventricle patient carrying the BRAF c.1897 T > C variant.

Combined Immunodeficiency Associated With MAP2K1 p.Tyr130His Variant in Cardiofaciocutaneous Syndrome: A Case Report With Literature-Based Phenotypic Comparison.

Combined Immunodeficiency Associated With MAP2K1 p.Tyr130His Variant in Cardiofaciocutaneous Syndrome: A Case Report With Literature-Based Phenotypic Comparison.

Cardio-facial-cutaneous syndrome mitral valve prolapse: a rare association.

Cardio-facial-cutaneous syndrome mitral valve prolapse: a rare association.

Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review

Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review

A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights.

A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights.

Occipital Extracranial Dermoid Cyst in a Neonate With Cardiofaciocutaneous Syndrome Type 4 (CFC4): A Case Report.

Occipital Extracranial Dermoid Cyst in a Neonate With Cardiofaciocutaneous Syndrome Type 4 (CFC4): A Case Report.

Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathies.

Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathies.

Role of Histopathology of Skin Lesions in Diagnosing MAP2K1-Positive Cardiofaciocutaneous Syndrome.

Role of Histopathology of Skin Lesions in Diagnosing MAP2K1-Positive Cardiofaciocutaneous Syndrome.