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Further Delineation of the ALG9-CDG Phenotype
ALG9-CDG is one of the less frequently reported types of CDG. Here, we summarize the features of six patients with ALG9-CDG reported in the literature and report the features of four additional patients. The patients presented with drug-resistant infantile epilepsy, hypotonia, dysmorphic features, f...
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| Publicado no: | JIMD Rep |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4867846/ https://ncbi.nlm.nih.gov/pubmed/26453364 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_504 |
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