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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2019
Fag:
Case Report
Online adgang: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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