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

Benign hereditary chorea (BHC) is a rare autosomal dominant condition characterized by early onset, non-progressive chorea, usually caused by mutations in the thyroid transcription factor-1 gene (TITF1). We describe a novel mutation arising de novo in a proband presenting in infancy with delayed wal...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Veneziano, Liana, Parkinson, Michael H., Mantuano, Elide, Frontali, Marina, Bhatia, Kailash P., Giunti, Paola
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Springer US 2014
Θέματα:
Original Paper
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4155168/
https://ncbi.nlm.nih.gov/pubmed/24930029
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12311-014-0570-7
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