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Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.

Genes - 19 Apr 2021

Azab Bilal, Dardas Zain, Aburizeg Dunia, Al-Bdour Muawyah, Abu-Ameerh Mohammed, Saleh Tareq, Barham Raghda, Maswadi Ranad, Ababneh Nidaa A, Alsalem Mohammad, Zouk Hana, Amr Sami, Awidi Abdalla

Abstract excerpt

Whole Exome Sequencing (WES) is a powerful approach for detecting sequence variations in the human genome. The aim of this study was to investigate the genetic defects in Jordanian patients with inherited retinal dystrophies (IRDs) using WES. WES was performed on proband patients' DNA samples from 55 Jordanian families. Sanger sequencing was used for validation and segregation analysis of the detected, potential...

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Pedigree
Child, Preschool
Cohort Studies
Exome
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Association Studies

Genetic Markers

Retinal Dystrophies

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Open in PubMed Open full text

Identifiers

PMID: 33921607
DOI: 10.3390/genes12040593
PMCID: PMC8074154

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