Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability

Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability

Intellectual disability (ID) is a condition of significant limitation of cognitive functioning and adaptive behavior, with 50% of etiology attributed to genetic predisposition. We recruited two consanguineous Pakistani families manifesting severe ID and developmental delay. The probands were subject...

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Bibliographic Details
Main Authors: Maria Asif, Maryam Anayat, Faiza Tariq, Tanzeela Noureen, Ghulam Naseer Ud Din, Christian Becker, Kerstin Becker, Holger Thiele, Ehtisham ul Haq Makhdoom, Pakeeza Arzoo Shaiq, Shahid M. Baig, Peter Nürnberg, Muhammad Sajid Hussain, Ghazala Kaukab Raja, Uzma Abdullah
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Genes
Subjects:
intellectual disability
whole-exome sequencing
consanguineous
<i>MBOAT7</i>
<i>TRAPPC9</i>
Online Access:https://www.mdpi.com/2073-4425/14/1/48

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https://www.mdpi.com/2073-4425/14/1/48

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