ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation

A boy presented at the age of 3.5 months with a developmental delay. He developed infantile spasms with hypsarrhytmia on EEG 1 month later. Additional symptoms were delayed visual development, asymmetrical hearing loss, hypotonia, and choreoathetoid movements. He also had some dysmorphic features an...

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Detaylı Bibliyografya
Yayımlandı:JIMD Rep
Asıl Yazarlar: Galama, Wienke H., Verhaagen – van den Akker, Sandra L. J., Lefeber, Dirk J., Feenstra, Ilse, Verrips, Aad
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Berlin Heidelberg 2017
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6122024/
https://ncbi.nlm.nih.gov/pubmed/28887793
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_53
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