Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies

Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies

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 5...

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Bibliographic Details
Main Authors: Bilal Azab, Zain Dardas, Dunia Aburizeg, Muawyah Al-Bdour, Mohammed Abu-Ameerh, Tareq Saleh, Raghda Barham, Ranad Maswadi, Nidaa A Ababneh, Mohammad Alsalem, Hana Zouk, Sami Amr, Abdalla Awidi
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Genes
Subjects:
inherited retinal dystrophy (IRD)
retinitis pigmentosa (RP)
whole exome sequencing
retinal genetic testing
unique phenotypes
Online Access:https://www.mdpi.com/2073-4425/12/4/593

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