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A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?
NKX2-1 mutations have been usually associated with a non-progressive neurological disease. Recent reports revealed a vast variability regarding its clinical expressivity. Aim of this work was widening the Benign Hereditary Chorea neurological, cognitive and behavioral phenotype through the descripti...
Autores principales: | Milone, Roberta, Masson, Riccardo, Di Cosmo, Caterina, Tonacchera, Massimo, Bertini, Veronica, Guzzetta, Andrea, Battini, Roberta |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376510/ https://www.ncbi.nlm.nih.gov/pubmed/30793011 http://dx.doi.org/10.1177/2329048X19828881 |
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