Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis

Christianson syndrome (CS) is an X-linked neurodevelopmental syndrome characterized by microcephaly, epilepsy, ataxia, and severe generalized developmental delay. Pathogenic mutations in the SLC9A6 gene, which encodes the Na(+)/H(+) exchanger protein member 6 (NHE6), are associated with CS and autis...

Descripción completa

Detalles Bibliográficos
Autores principales: Lan, Yueyun, Yi, Sheng, Li, Mengting, Wang, Jinqiu, Yang, Qi, Yi, Shang, Chen, Fei, Huang, Limei, Ruan, Yiyan, Shen, Yiping, Luo, Jingsi, Qin, Zailong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8721738/
https://www.ncbi.nlm.nih.gov/pubmed/34987551
http://dx.doi.org/10.3389/fgene.2021.783841

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8721738/
https://www.ncbi.nlm.nih.gov/pubmed/34987551
http://dx.doi.org/10.3389/fgene.2021.783841

Ejemplares similares