Expanding the molecular and clinical phenotype of SSR4-CDG

Congenital disorders of glycosylation (CDG) are a group of mostly autosomal recessive disorders primarily characterized by neurological abnormalities. Recently, we described a single CDG patient with a de novo mutation in the X-linked gene, Signal Sequence Receptor 4 (SSR4). We performed whole exome...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Ng, Bobby G., Raymond, Kimiyo, Kircher, Martin, Buckingham, Kati J., Wood, Tim, Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Wong, Jonathan T.S., Monteiro, Fabiola Paoli, Graham, Brett H., Jackson, Sheryl, Sparkes, Rebecca, Scheuerle, Angela E., Cathey, Sara, Kok, Fernando, Gibson, James B., Freeze, Hudson H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4604052/
https://ncbi.nlm.nih.gov/pubmed/26264460
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22856
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