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Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

BACKGROUND: Hyperekplexia also known as Startle disease is a rare neuromotor hereditary disorder characterized by exaggerated startle responses to unexpected auditory, tactile, and visual stimuli and generalized muscle stiffness, which both gradually subside during the first months of life. Although...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Sprovieri, Teresa, Ungaro, Carmine, Sivo, Serena, Quintiliani, Michela, Contaldo, Ilaria, Veredice, Chiara, Citrigno, Luigi, Muglia, Maria, Cavalcanti, Francesca, Cavallaro, Sebastiano, Mercuri, Eugenio, Battaglia, Domenica
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6417078/
https://ncbi.nlm.nih.gov/pubmed/30866851
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0779-x
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