Article

Clinical, neuroimaging and molecular spectrum of <i>TECPR2</i>-associated hereditary sensory and autonomic neuropathy with intellectual disability

2020-10-20

Abstract excerpt

<h4>ABSTRACT</h4> <h4>PURPOSE</h4> Bi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation framework for this genetic locus. <h4>METHODS</h4> Through an international collaboration, we identified 17 individuals from 15 families with bi-allelic T...

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Literature Corpus work: 7f1e79a7-02b4-5f77-8b09-3e64ba5518c8
DOI: 10.1101/2020.10.10.20202622

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