Homozygous deletion of Tenascin-R in a patient with intellectual disability

BACKGROUND: TNR encodes Tenascin-R, an extracellular matrix glycoprotein that is primarily expressed in the central nervous system. Loss of TNR impairs cognition, synaptic plasticity and motor abilities in mice, however its role in human neurodevelopment and cognition is less clear. METHODS AND RESU...

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Detalles Bibliográficos
Autores principales: Dufresne, David, Hamdan, Fadi F, Rosenfeld, Jill A, Torchia, Beth, Rosenblatt, Bernard, Michaud, Jacques L, Srour, Myriam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Group 2012
Materias:
Copy-Number Variation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395313/
https://www.ncbi.nlm.nih.gov/pubmed/22730557
http://dx.doi.org/10.1136/jmedgenet-2012-100831

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395313/
https://www.ncbi.nlm.nih.gov/pubmed/22730557
http://dx.doi.org/10.1136/jmedgenet-2012-100831

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