Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing

Advances in high-throughput technologies and its implementation worldwide have had a considerable impact on the elucidation of the molecular causes underlying neurodevelopmental psychiatric disorders, especially for autism spectrum disorder and intellectual disability (ID). Nevertheless, etiology re...

Descripción completa

Detalles Bibliográficos
Autores principales: Alvarez-Mora, Maria Isabel, Corominas, Jordi, Gilissen, Christian, Sanchez, Aurora, Madrigal, Irene, Rodriguez-Revenga, Laia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8068822/
https://www.ncbi.nlm.nih.gov/pubmed/33921338
http://dx.doi.org/10.3390/genes12040557

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8068822/
https://www.ncbi.nlm.nih.gov/pubmed/33921338
http://dx.doi.org/10.3390/genes12040557

Ejemplares similares