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

OBJECTIVE: To explore the genetic etiology of a child with facial dysmorphia, developmental delay, intellectual disability, Fanconi renotubular syndrome, and Chiari malformations. MATERIALS AND METHODS: Whole exome sequencing (WES), Copy number variation sequencing (CNV-seq), and mitochondrial gene...

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Detalles Bibliográficos
Autores principales: Shen, Yingxiao, Xu, Xiaoqin, Chen, Jiansong, Wang, Jingjing, Dong, Guanping, Huang, Ke, Fu, Junfen, Wu, Dingwen, Wu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160663/
https://www.ncbi.nlm.nih.gov/pubmed/37152320
http://dx.doi.org/10.3389/fped.2023.1097062

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160663/
https://www.ncbi.nlm.nih.gov/pubmed/37152320
http://dx.doi.org/10.3389/fped.2023.1097062

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