Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

Abstract Background Intellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder, with an onset of cognitive impairment before the age of 18 years. ID is characterized by significant limitations in intellectual functioning and adaptive behaviour. The iden...

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Bibliographic Details

Published in:	BMC Medical Genetics
Main Authors:	Muhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, Nuzhat Noureen, Faisal Zafar, Sobiah Rauf, Asif Mir, Henry Houlden
Format:	Article
Language:	English
Published:	BMC 2020-03-01
Subjects:	Intellectual disability VPS53 gene GLB1 gene MLC1 gene Whole exome sequencing
Online Access:	http://link.springer.com/article/10.1186/s12881-020-00998-z