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 autism sp...

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Główni autorzy:	Yueyun Lan, Sheng Yi, Mengting Li, Jinqiu Wang, Qi Yang, Shang Yi, Fei Chen, Limei Huang, Yiyan Ruan, Yiping Shen, Jingsi Luo, Zailong Qin
Format:	Artigo
Język:	Inglês
Wydane:	Frontiers Media S.A. 2021-12-01
Seria:	Frontiers in Genetics
Hasła przedmiotowe:	christianson syndrome epilepsy SLC9A6 gene Na + /H + exchanger 6 electroencephalography developmental delay
Dostęp online:	https://www.frontiersin.org/articles/10.3389/fgene.2021.783841/full
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