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Open AccessCase Report

Three Novel HSPG2 Mutations Causing Schwartz-Jampel Syndrome

by Andrew Wahba and Rafik ElBeblawy

American Journal of Medical Case Reports. 2020, 8(10), 325-327. DOI: 10.12691/ajmcr-8-10-1
Pub. Date: June 16, 2020Views: 7542 Downloads: 9862Like: 9

Schwartz-Jampel syndrome heparan sulfate proteoglycan 2 HSPG2 myotonia

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