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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Main Authors: Dufresne, David, Hamdan, Fadi F, Rosenfeld, Jill A, Torchia, Beth, Rosenblatt, Bernard, Michaud, Jacques L, Srour, Myriam
Format: Artigo
Jezik:Inglês
Izdano: BMJ Group 2012
Teme:
Copy-Number Variation
Online dostop: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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