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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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| Publicado no: | Am J Case Rep |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
International Scientific Literature, Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7249741/ https://ncbi.nlm.nih.gov/pubmed/32389998 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12659/AJCR.919463 |
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