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Last Updated: 01/07/2026

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Found 218 publications

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.

Journal: European journal of dermatology : EJD
Published: November 24, 2025

Current opinions on Noonan syndrome and RASopathies.

Current opinions on Noonan syndrome and RASopathies.

Journal: Current opinion in pediatrics
Published: November 13, 2025

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.

Journal: Stem cell research
Published: September 22, 2025

De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.

De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.

Journal: BMJ case reports
Published: August 08, 2025

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

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

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

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

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

Journal: The American Journal of dermatopathology
Published: June 26, 2025

Langerhans Cell Histiocytosis in Cardiofaciocutaneous Syndrome.

Langerhans Cell Histiocytosis in Cardiofaciocutaneous Syndrome.

Journal: American journal of medical genetics. Part A
Published: May 15, 2025

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.

Journal: American journal of medical genetics. Part A
Published: April 21, 2025

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

Journal: Frontiers in immunology
Published: March 24, 2025

Quantitative T1 Mapping Indicates Elevated White Matter Myelin in Children With RASopathies.

Quantitative T1 Mapping Indicates Elevated White Matter Myelin in Children With RASopathies.

Journal: Biological psychiatry
Published: December 02, 2024

Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome.

Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome.

Journal: Journal of intellectual disability research : JIDR
Published: November 04, 2024
Showing 1-12 of 218

Last Updated: 01/07/2026