Article
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Scientific reports - 7 Nov 2022
Al-Kasbi Ghalia, Al-Murshedi Fathiya, Al-Kindi Adila, Al-Hashimi Nadia, Al-Thihli Khalid, Al-Saegh Abeer, Al-Futaisi Amna, Al-Mamari Watfa, Al-Asmi Abdullah, Bruwer Zandre, Al-Kharusi Khalsa, Al-Rashdi Samiya, Zadjali Fahad, Al-Yahyaee Said, Al-Maawali Almundher
Abstract excerpt
Global Developmental Delay/Intellectual disability (ID) is the term used to describe various disorders caused by abnormal brain development and characterized by impairments in cognition, communication, behavior, or motor skills. In the past few years, whole-exome sequencing (WES) has been proven to be a powerful, robust, and scalable approach for candidate gene discoveries in consanguineous populations. In this...
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