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Article

Unraveling the genetic tapestry of pediatric sarcomeric cardiomyopathies and masquerading phenocopies in Jordan.

Scientific reports - 2 Jul 2024

Azab Bilal, Aburizeg Dunia, Shaaban Sherin T, Ji Weizhen, Mustafa Lina, Isbeih Nooredeen Jamal, Al-Akily Amal Saleh, Mohammad Hashim, Jeffries Lauren, Khokha Mustafa, Lakhani Saquib A, Al-Ammouri Iyad

Abstract excerpt

Pediatric cardiomyopathies are mostly attributed to variants in sarcomere-related genes. Unfortunately, the genetic architecture of pediatric cardiomyopathies has never been previously studied in Jordan. We sought to uncover the genetic landscape of 14 patients from nine families with several subtypes of pediatric cardiomyopathies in Jordan using Exome sequencing (ES). Our investigation identified pathogenic and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38956129
DOI: 10.1038/s41598-024-64921-9
PMCID: PMC11219879

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