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Christianson syndrome: A novel splicing variant of SLC9A6 causes exon skipping in a Chinese boy and a literature review

BACKGROUND: Variants in the endosomal solute carrier family 9 member A6 (SLC9A6)/(Na(+),K(+))/H(+) exchanger 6 (NHE6) gene have been linked to epilepsy, speech loss, truncal ataxia, hyperkinesia, and postnatal microcephaly. METHODS: In the present study, we evaluated genetic alterations in a 3‐year‐...

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Detalles Bibliográficos
Autores principales:	Zhang, Xiaoge, Wu, Xiaofang, Liu, Hongli, Song, Tingting, Jiang, Yongsheng, He, Hanhan, Yang, Shaoqing, Xie, Yun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8761434/ https://www.ncbi.nlm.nih.gov/pubmed/34791706 http://dx.doi.org/10.1002/jcla.24123

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