Cardiofaciocutaneous Syndrome Latest Advances

Duodenal Duplication Cyst in Cardiofaciocutaneous Syndrome: A Possible Expansion of the Gastrointestinal Phenotype of RASopathies - A Case Report.

Journal: Molecular syndromology

Published: May 06, 2026

Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.

Journal: Clinical genetics

Published: April 15, 2026

Personalized care outweighs ultraspecialization: a caregiver's perspective on meaningful medicine in genodermatoses.

Journal: Skin health and disease

Published: March 12, 2026

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

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

Cardiofaciocutaneous Syndrome Latest Advances

Find the Latest Research About Cardiofaciocutaneous Syndrome

Duodenal Duplication Cyst in Cardiofaciocutaneous Syndrome: A Possible Expansion of the Gastrointestinal Phenotype of RASopathies - A Case Report.

Duodenal Duplication Cyst in Cardiofaciocutaneous Syndrome: A Possible Expansion of the Gastrointestinal Phenotype of RASopathies - A Case Report.

Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.

Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.

Personalized care outweighs ultraspecialization: a caregiver's perspective on meaningful medicine in genodermatoses.

Personalized care outweighs ultraspecialization: a caregiver's perspective on meaningful medicine in genodermatoses.

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

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.