Case Report: Identification of Two Variants of ALG13 in Families With or Without Seizure and Binocular Strabismus: Phenotypic Spectrum Analysis

Background: Genetic causes in most affected children with intellectual disability and/or development delay remain unknown. Methods: To identify potential variants responsible for these disorders, we recruited 161 affected families and performed whole-exome sequencing and associated bioinformatics an...

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Detalles Bibliográficos
Autores principales: Cai, Tao, Huang, Jieting, Ma, Xiuwei, Hu, Siqi, Zhu, Lina, Zhu, Jinwen, Feng, Zhichun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9310169/
https://www.ncbi.nlm.nih.gov/pubmed/35899201
http://dx.doi.org/10.3389/fgene.2022.892940

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9310169/
https://www.ncbi.nlm.nih.gov/pubmed/35899201
http://dx.doi.org/10.3389/fgene.2022.892940

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