A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant
Author:
Publisher
Informa UK Limited
Subject
Pharmacology,Molecular Medicine
Reference14 articles.
1. Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines
2. Germline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome
3. Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene
4. Immunoglobulin deficiency associated with a MAP2K1-related mutation causing cardio-facio-cutaneous syndrome
5. Cardiofaciocutaneous syndrome – a longitudinal study of a case over 33 years: case report and review of the literature
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1. A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant [Letter];Pharmacogenomics and Personalized Medicine;2023-10
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