Genotype and phenotype of familial hypercholesterolemia in Egyptian children: a single-center study

This study revealed a significant correlation between genotype and phenotype in Egyptian children with FH, with homozygous individuals experiencing more severe clinical symptoms. These findings underscore the importance of genetic screening in assessing disease severity and tailoring treatment strategies.

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Publication Details

Journal
Journal of Tropical Pediatrics
Published
2025-10-12
DOI
https://doi.org/10.1093/tropej/fmaf042
Primary Topic
Lipoproteins and Cardiovascular Health
Type
article
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article

Genotype and phenotype of familial hypercholesterolemia in Egyptian children: a single-center study

Aml A. Mahfouz, Omneya Magdy Omar, Iman Marzouk, Ola Sharaki et al.
Journal of Tropical Pediatrics
Lipoproteins and Cardiovascular Health
article

Genotype and phenotype of familial hypercholesterolemia in Egyptian children: a single-center study

Aml A. Mahfouz, Omneya Magdy Omar, Iman Marzouk, Ola Sharaki, Amira Hamed, I. Helmy
article en

Abstract

This study revealed a significant correlation between genotype and phenotype in Egyptian children with FH, with homozygous individuals experiencing more severe clinical symptoms. These findings underscore the importance of genetic screening in assessing disease severity and tailoring treatment strategies.

Journal of Tropical PediatricsVol. 71(6)
Alexandria University (EG)
Openalex Percentile: Top 50%
Lipoproteins and Cardiovascular Health
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