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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...
Autores principales: | Dufresne, David, Hamdan, Fadi F, Rosenfeld, Jill A, Torchia, Beth, Rosenblatt, Bernard, Michaud, Jacques L, Srour, Myriam |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Group
2012
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Materias: | |
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 |
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