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Schwartz–Jampel syndrome
Schwartz–Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. Diagnosis is made by awareness into the typical phenotypic characters.
Autores principales: | Chandra, Sadanandavalli Retnaswami, Issac, Thomas Gregor, Gayathri, N., Shivaram, Sumanth |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489067/ https://www.ncbi.nlm.nih.gov/pubmed/26167227 http://dx.doi.org/10.4103/1817-1745.159202 |
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