Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33–p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review

A simultaneous analysis of nucleotide changes and copy number variations (CNVs) based on exome sequencing data was demonstrated as a potential new first-tier diagnosis strategy for rare neuropsychiatric disorders. In this report, using depth-of-coverage analysis from exome sequencing data, we descri...

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Detalles Bibliográficos
Autores principales: Han, Ji Yoon, Park, Joonhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303811/
https://www.ncbi.nlm.nih.gov/pubmed/34210021
http://dx.doi.org/10.3390/genes12071001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303811/
https://www.ncbi.nlm.nih.gov/pubmed/34210021
http://dx.doi.org/10.3390/genes12071001

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