Browsing by Subject "Familial dysautonomia"

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Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia

Macefield, Vaughan G. (2018)

Objective: To assess vestibular function in patients with familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy – caused by a mutation in the IKBKAP gene (c.2204 + 6 T > C) – and characterized by marked ...