Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy

Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy

Abstract Background Autism spectrum disorder is commonly co‐diagnosed intellectual disability, language disorder, anxiety, and epilepsy, however, symptom management is difficult due to the complex genetic nature of ASD. Methods We present a next‐generation sequencing‐based case study with both de no...

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Bibliographic Details
Main Authors: Kristy Jay, Amit Mitra, Taylor Harding, David Matthes, Brian Van Ness
Format: Article
Language:English
Published: Wiley 2019-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
COMT
FOXP1
SLC6A4
structural variants
whole genome/exome sequencing
Online Access:https://doi.org/10.1002/mgg3.751

Internet

https://doi.org/10.1002/mgg3.751

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