Abnormal glycosylation in Joubert syndrome type 10

BACKGROUND: The discovery of disease pathogenesis requires systematic agnostic screening of multiple homeostatic processes that may become deregulated. We illustrate this principle in the evaluation and diagnosis of a 5-year-old boy with Joubert syndrome type 10 (JBTS10). He carried the OFD1 mutatio...

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Detalles Bibliográficos
Autores principales: Kane, Megan S., Davids, Mariska, Bond, Michelle R., Adams, Christopher J., Grout, Megan E., Phelps, Ian G., O’Day, Diana R., Dempsey, Jennifer C., Li, Xeuli, Golas, Gretchen, Vezina, Gilbert, Gunay-Aygun, Meral, Hanover, John A., Doherty, Dan, He, Miao, Malicdan, May Christine V., Gahl, William A., Boerkoel, Cornelius F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364566/
https://www.ncbi.nlm.nih.gov/pubmed/28344780
http://dx.doi.org/10.1186/s13630-017-0048-6

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