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

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 novo and...

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Detalles Bibliográficos
Autores principales: Jay, Kristy, Mitra, Amit, Harding, Taylor, Matthes, David, Van Ness, Brian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625142/
https://www.ncbi.nlm.nih.gov/pubmed/31111659
http://dx.doi.org/10.1002/mgg3.751

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