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Article

Targeted NGS Revealed Pathogenic Mutation in a 13-Year-Old Patient with Homozygous Familial Hypercholesterolemia: A Case Report.

International journal of molecular sciences - 5 Nov 2024

Chamoieva Ayaulym E, Mirmanova Zhanel Z, Zhalbinova Madina R, Rakhimova Saule E, Daniyarov Asset Z, Kairov Ulykbek Y, Baigalkanova Almira I, Mukarov Murat A, Bekbossynova Makhabbat S, Akilzhanova Ainur R

Abstract excerpt

Familial hypercholesterolemia is an autosomal hereditary disease defined by an increased level of low-density lipoprotein cholesterol (LDL-C), which predisposes significant risks for premature cardiovascular disorders. We present a family trio study: proband, a 13-year-old Kazakh girl with homozygous familial hypercholesterolemia (HoFH) and her parents. HoFH is much more rare and severe than a heterozygous form...

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Share to Adolescent
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

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Share to Hyperlipoproteinemia Type II

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Identifiers

PMID: 39595952
DOI: 10.3390/ijms252211882
PMCID: PMC11593385

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