Exome sequencing identifies novel and known mutations in families with intellectual disability

Exome sequencing identifies novel and known mutations in families with intellectual disability

Abstract Background Intellectual disability (ID) is a phenotypically and genetically heterogeneous disorder. Methods In this study, genome wide SNP microarray and whole exome sequencing are used for the variant identification in eight Pakistani families with ID. Beside ID, most of the affected indiv...

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Bibliographic Details
Main Authors: Memoona Rasheed, Valeed Khan, Ricardo Harripaul, Maimoona Siddiqui, Madiha Amin Malik, Zahid Ullah, Muhammad Zahid, John B. Vincent, Muhammad Ansar
Format: Article
Language:English
Published: BMC 2021-08-01
Series:BMC Medical Genomics
Subjects:
Intellectual disability
Mutation
Autosomal recessive
Consanguinity
Online Access:https://doi.org/10.1186/s12920-021-01066-y

Internet

https://doi.org/10.1186/s12920-021-01066-y

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