Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome

OBJECTIVE: Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na(+)/H(+) Exchanger 6 (NHE6). We aimed to determine the diagnostic criteria and mutational spectrum for CS. METHODS: Twelve independent pedigrees (14 boys, ages 4 to 19) with mutations in N...

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Detalhes bibliográficos
Publicado no:Ann Neurol
Main Authors: Pescosolido, Matthew F., Stein, David M., Schmidt, Michael, Achkar, Christelle Moufawad El, Sabbagh, Mark, Rogg, Jeffrey M., Tantravahi, Umadevi, McLean, Rebecca L., Liu, Judy S., Poduri, Annapurna, Morrow, Eric M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4304796/
https://ncbi.nlm.nih.gov/pubmed/25044251
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24225
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