Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia
- 1 May 2002
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 70 (5) , 1368-1375
- https://doi.org/10.1086/340390
Abstract
No abstract availableKeywords
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