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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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Main Authors: Yingxiao Shen, Xiaoqin Xu, Jiansong Chen, Jingjing Wang, Guanping Dong, Ke Huang, Junfen Fu, Dingwen Wu, Wei Wu
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2023-04-01
Series:Frontiers in Pediatrics
Subjects:
deletion 11q13
copy number variation
fanconi renotubular syndrome
SHANK2
ANO1
mental retardation
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1097062/full
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