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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.

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Pediatr Neurosci
Prif Awduron: Chandra, Sadanandavalli Retnaswami, Issac, Thomas Gregor, Gayathri, N., Shivaram, Sumanth
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Medknow Publications & Media Pvt Ltd 2015
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4489067/
https://ncbi.nlm.nih.gov/pubmed/26167227
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1817-1745.159202
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