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Last Updated: 10/31/2025
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Found 212 publications
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
Role of Histopathology of Skin Lesions in Diagnosing MAP2K1-Positive Cardiofaciocutaneous Syndrome.
Journal: The American Journal of dermatopathology
Published: June 26, 2025
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.
Journal: Frontiers in immunology
Published: March 24, 2025
Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome.
Journal: Journal of intellectual disability research : JIDR
Published: November 04, 2024
A Literature Review and Pooled Case Analysis of Cardiofaciocutaneous Syndrome to Estimate Cancer Risk.
Journal: medRxiv : the preprint server for health sciences
Published: October 07, 2024
A literature review and pooled case analysis of cardiofaciocutaneous syndrome to estimate cancer risk.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 23, 2024
RASopathies. Part II: Cutaneous and extracutaneous manifestations.
Journal: Journal of the American Academy of Dermatology
Published: August 17, 2024
Granulomatous Variant of Giant Centrifugal Miliaria Profunda in an 8-Month-Old Boy: Expanding the Dermatologic Phenotype of Cardiofaciocutaneous Syndrome.
Journal: Pediatric dermatology
Published: August 10, 2024
An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome.
Journal: American journal of medical genetics. Part A
Published: July 22, 2024
Last Updated: 10/31/2025