Two Cases of Recessive Intellectual Disability Caused by <i>NDST1</i> and <i>METTL23</i> Variants

Two Cases of Recessive Intellectual Disability Caused by <i>NDST1</i> and <i>METTL23</i> Variants

Intellectual disability (ID) is a highly heterogeneous genetic condition with more than a thousand genes described so far. By exome sequencing of two consanguineous families presenting hallmark features of ID, we identified two homozygous variants in two genes previously associated with autosomal re...

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Bibliographic Details
Main Authors: Amjad Khan, Zhichao Miao, Muhammad Umair, Amir Ullah, Mohammad A. Alshabeeb, Muhammad Bilal, Farooq Ahmad, Gudrun A. Rappold, Muhammad Ansar, Raphael Carapito
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:Genes
Subjects:
autosomal recessive intellectual disability
<i>NDST1</i>
<i>METTL23</i>
exome sequencing
Online Access:https://www.mdpi.com/2073-4425/11/9/1021

Internet

https://www.mdpi.com/2073-4425/11/9/1021

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