Clinical and genetic analysis of Christianson syndrome caused by variant of SLC9A6: case report and literature review

BACKGROUND: Intellectual disability, X-linked, syndromic, Christianson type (MRXSCH, OMIM: 300243)—known as Christianson syndrome (CS)—is characterized by microcephaly, epilepsy, ataxia, and absence of verbal language ability. CS is attributed to mutations in the solute carrier family 9 member A6 ge...

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Detalles Bibliográficos
Autores principales: Dong, Yan, Lian, Ruofei, Jin, Liang, Zhao, Shichao, Tao, Wenpeng, Wang, Lijun, Li, Mengchun, Jia, Tianming, Chen, Xuejing, Cao, Shushi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196350/
https://www.ncbi.nlm.nih.gov/pubmed/37213903
http://dx.doi.org/10.3389/fneur.2023.1152696

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196350/
https://www.ncbi.nlm.nih.gov/pubmed/37213903
http://dx.doi.org/10.3389/fneur.2023.1152696

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