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‐...

Descripción completa

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

Internet

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

Ejemplares similares