Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant

Case series Patients: — Final Diagnosis: Hereditary spastic paraplegia type 4 Symptoms: Progressive psychomotor deterioration • mixed seizure patterns • corneal opacity • dysostotic bones • limb spasticity with extensor plantar responses • axial hypotonia Medication: — Clinical Procedure: Phenotype-...

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Detalles Bibliográficos
Autores principales: Cruz-Camino, Héctor, Vázquez-Cantú, Mercedes, Vázquez-Cantú, Diana Laura, Santos-Guzmán, Jesús, Bandala-Jacques, Antonio, Gómez-Gutiérrez, René, Cantú-Reyna, Consuelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249741/
https://www.ncbi.nlm.nih.gov/pubmed/32389998
http://dx.doi.org/10.12659/AJCR.919463

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249741/
https://www.ncbi.nlm.nih.gov/pubmed/32389998
http://dx.doi.org/10.12659/AJCR.919463

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