Molecular and cytologic studies of Ehlers-Danlos syndrome type VIII
dc.contributor.author | Biesecker, Leslie G. | en_US |
dc.contributor.author | Glover, Thomas W. | en_US |
dc.contributor.author | Bonadio, Jeffrey F. | en_US |
dc.date.accessioned | 2006-04-28T16:48:37Z | |
dc.date.available | 2006-04-28T16:48:37Z | |
dc.date.issued | 1991-12-01 | en_US |
dc.identifier.citation | Biesecker, L. G.; Glover, T. W.; Bonadio, J. (1991)."Molecular and cytologic studies of Ehlers-Danlos syndrome type VIII." American Journal of Medical Genetics 41(3): 284-288. <http://hdl.handle.net/2027.42/38257> | en_US |
dc.identifier.issn | 0148-7299 | en_US |
dc.identifier.issn | 1096-8628 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/38257 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=1789281&dopt=citation | en_US |
dc.description.abstract | We present a family with findings of Ehlers-Danlos syndrome type VIII and a presenile appearance due to decreased subcutaneous tissue with drawn skin, defective wound healing, contractures, and thin hair. To investigate this syndrome, we studied collagen production and the growth properties of cultured fibroblasts taken from affected relatives. We could not find evidence of a collagen defect or premature senescence of cultured fibroblasts, although the fibroblasts may have a decreased growth rate. We conclude that this family has findings of EDS VIII and premature aging and propose that this overlapping phenotype is due to a single pathogenetic mechanism. Our studies of collagen production and fibroblast replication did not discern this mechanism. | en_US |
dc.format.extent | 571583 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Molecular and cytologic studies of Ehlers-Danlos syndrome type VIII | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Departments of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor, Michigan ; University of Michigan Department of Pediatrics, Section of Pediatric Genetics, University of Michigan Hospitals, D 1109 M.P.B., Ann Arbor, MI 48109-0718 | en_US |
dc.contributor.affiliationum | Departments of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor, Michigan ; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan ; Howard Hughes Medical Institute, Ann Arbor, Michigan | en_US |
dc.identifier.pmid | 1789281 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/38257/1/1320410305_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/ajmg.1320410305 | en_US |
dc.identifier.source | American Journal of Medical Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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