ArticleMolecular syndromology2025
Coexistence of Rare Genetic Disorders in a Consanguineous Family: Case Study of KLHL24-Related Hypertrophic Cardiomyopathy and Char Syndrome.
Article in Molecular syndromology, 2025. 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.
- KLHL24-Associated Hypertrophic Cardiomyopathy: When Genotype Outpaces Phenotype.JACC. Case reports · 2026Article
- Biallelic KLHL24 Loss-of-Function Variants: Emerging Evidence for Early-Onset Arrhythmias and Hypertrophic Cardiomyopathy.JACC. Case reports · 2026Article
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8 authors.
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Abstract
Introduction: Physicians often search for a single underlying cause that explains all of a patient's signs and symptoms. However, evidence from the literature suggests that the concurrent presence of two rare diseases, although uncommon, poses significant diagnostic challenges. Precision medicine is increasingly important in these scenarios, enabling more rapid diagnosis and tailored treatments. Case Presentation: This report discusses a patient involving a consanguineous Brazilian family, where two sisters are diagnosed with autosomal recessive Conclusion: This case underscores the possibility that multiple rare genetic disorders can coexist, contributing to complex clinical phenotypes. Whole-exome sequencing proves to be a critical tool in identifying the genetic underpinnings of such complex cases, facilitating precise diagnosis and genetic counseling. The discovery of a homozygous
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