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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...

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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

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