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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...

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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

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