De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature

ObjectiveTo explore the genetic etiology of a child with facial dysmorphia, developmental delay, intellectual disability, Fanconi renotubular syndrome, and Chiari malformations.Materials and methodsWhole exome sequencing (WES), Copy number variation sequencing (CNV-seq), and mitochondrial gene detec...

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Autors principals:	Yingxiao Shen, Xiaoqin Xu, Jiansong Chen, Jingjing Wang, Guanping Dong, Ke Huang, Junfen Fu, Dingwen Wu, Wei Wu
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2023-04-01
Col·lecció:	Frontiers in Pediatrics
Matèries:	deletion 11q13 copy number variation fanconi renotubular syndrome SHANK2 ANO1 mental retardation
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fped.2023.1097062/full
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