Complex Neurological Phenotype in Female Carriers of NHE6 Mutations

Mutations in NHE6 (also termed SLC9A6) cause the X-linked neurological disorder Christianson syndrome (CS) in males. The purpose of this study was to examine the phenotypic spectrum of female carriers of NHE6 mutations. Twenty female carriers from 9 pedigrees were enrolled, ranging from approximatel...

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Detalhes bibliográficos
Publicado no:Mol Neuropsychiatry
Main Authors: Pescosolido, Matthew F., Kavanaugh, Brian C., Pochet, Nathalie, Schmidt, Michael, Jerskey, Beth A., Rogg, Jeffrey M., De Jager, Philip L., Young-Pearse, Tracy L., Liu, Judy S., Morrow, Eric M.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2019
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Original Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6528080/
https://ncbi.nlm.nih.gov/pubmed/31192222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000496341
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