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CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature

Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, muta...

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Detalles Bibliográficos
Autores principales:	Hsu, Tina, Coughlin, Carrie C., Monaghan, Kristin G., Fiala, Elise, McKinstry, Robert C., Paciorkowski, Alex R., Shinawi, Marwan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2017
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5638153/ https://www.ncbi.nlm.nih.gov/pubmed/29051910 http://dx.doi.org/10.1177/2329048X17733214

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