Eri Arikawa-Hirasawa, M.D., Ph.d., is a neurologist, who worked at the National Institute of Dental and Craniofacial Research, National Institutes of Health for the past 5 years. She is now an assistant professor in the Department of Neurology at Juntendo University Medical School in Japan. Her major interest has been in muscle disorders and neural development. She was instrumental in creating knockout mice for perlecan and identifying the unexpected cartilage defects in the mutant mice, whose phenotype led to the identification of mutations in the perlecan gene of DDSH patients.
Dyssegmental dysplasia, Silverman-Handmaker type: Unexpected role of perlecan in cartilage development#
Article first published online: 25 JAN 2002
Published 2002 Wiley-Liss, Inc.
American Journal of Medical Genetics
Special Issue: Latest Developments in Skeletal Dysplasias
Volume 106, Issue 4, pages 254–257, Winter 2001
How to Cite
Arikawa-Hirasawa, E., Wilcox, W. R. and Yamada, Y. (2001), Dyssegmental dysplasia, Silverman-Handmaker type: Unexpected role of perlecan in cartilage development. Am. J. Med. Genet., 106: 254–257. doi: 10.1002/ajmg.10229
This article was prepared by a group consisting of both United States Government employees and non-United States Government employees, and as such is subject to 117 U.S.C. Sec. 105.
- Issue published online: 23 OCT 2002
- Article first published online: 25 JAN 2002
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