Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly

OBJECTIVES: Microcephaly is caused by reduced brain volume and most usually associated with a variety of neurodevelopmental disorders (NDDs). To provide an overview of the diagnostic yield of whole exome sequencing (WES) and promote novel candidates in genetically unsolved families, we studied the c...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Chunli, Zhou, Wei, Zhang, Luyan, Fu, Luhan, Shi, Wei, Qing, Yan, Lu, Fen, Tang, Jian, Gao, Xiucheng, Zhang, Aihua, Jia, Zhanjun, Zhang, Yue, Zhao, Xiaoke, Zheng, Bixia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10373276/
https://www.ncbi.nlm.nih.gov/pubmed/37501076
http://dx.doi.org/10.1186/s12864-023-09505-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10373276/
https://www.ncbi.nlm.nih.gov/pubmed/37501076
http://dx.doi.org/10.1186/s12864-023-09505-z

Ejemplares similares