ArticleMolecular syndromology2023
Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia.
Article in Molecular syndromology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Exploring the clinical complexity of cardio-facio-cutaneous syndrome: insights from a pediatric case series.Frontiers in pediatrics · 2024Article
- A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant [Letter].Pharmacogenomics and personalized medicine · 2023Article
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Authors and funding
10 authors.
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Abstract
Background: Cardiofaciocutaneous syndrome (CFCS) is a rare genetic condition caused by mutations in Objective: The aim of this study was to assess the patients‧ phenotypic features for syndromic disorders and evaluate the use of molecular testing to clarify the clinical diagnosis. Method: The patients were recruited for genetic testing with written informed consent. Genomic DNA from venous blood was sequenced and potential variants were identified via targeted next-generation sequencing. Their phenotypic features were compared with other CFCS cases carrying pathogenic variants in the same gene. Results and Discussion: One patient had a de novo variant (c.370C>T; p.P124S) in Conclusion: The genetic findings for the 2 patients affirm the use of identified gene mutations to confirm the clinical diagnosis of syndromic disorders and add to the phenotypic spectrum of CFCS.
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