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A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia,Benign Hereditary Chorea,Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature
Authors:Liana Veneziano  Michael H Parkinson  Elide Mantuano  Marina Frontali  Kailash P Bhatia  Paola Giunti
Institution:1. Institute of Translational Pharmacology, National Research Council, Via Fosso del Cavaliere 100, 00133, Rome, Italy
2. Department of Molecular Neuroscience, UCL Institute of Neurology, Room 712, Queen Square, London, WC1N 3BG, UK
3. National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK
4. Sobell Department of Motor Neuroscience & Movement Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK
Abstract:
Keywords:
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