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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Detalhes bibliográficos
Main Authors: Dufresne, David, Hamdan, Fadi F, Rosenfeld, Jill A, Torchia, Beth, Rosenblatt, Bernard, Michaud, Jacques L, Srour, Myriam
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2012
Assuntos:
Copy-Number Variation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3395313/
https://ncbi.nlm.nih.gov/pubmed/22730557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-100831
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