Article

Whole Exome Sequencing on a multiplex family of Indian origin identifies mutations at 17p11.2 in siblings with autism spectrum disorders: implications to understanding the pathophysiology from syndromic variants.

2023-10-16

Abstract excerpt

<title>Abstract</title> <p>Autism Spectrum Disorders (ASDs) is a complex neurodevelopmental disorder characterized by restrictive repetitive behaviour and impairment in social and communication skills. It is extremely heterogeneous with a strong genetic preponderance. It’s clinically highly convoluted, represented with multiple comorbid conditions and syndromic features. More than 100 genes have been identified t...

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Literature Corpus work: 106d5872-0e28-50f5-8e78-8c335625c965
DOI: 10.21203/rs.3.rs-3426336/v1

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Whole Exome Sequencing on a multiplex family of Indian origin identifies mutations at 17p11.2 in siblings with autism spectrum disorders: implications to understanding the pathophysiology from syndromic variants.DOI 10.21203/rs.3.rs-3426336/v1Read

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