TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability

Title
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability
Authors
Keywords
TECPR2, Autophagy, HSAN III, IKBKAP, Hereditary spastic paraparesis, Jewish Ashkenazi
Journal
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Volume 20, Issue 1, Pages 69-79
Publisher
Elsevier BV
Online
2015-10-25
DOI
10.1016/j.ejpn.2015.10.003

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