Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions, and discolored teeth
dc.contributor.author | Innis, Jeffrey W. | en_US |
dc.contributor.author | Sieving, Paul A. | en_US |
dc.contributor.author | McMillan, Pamella | en_US |
dc.contributor.author | Weatherly, Robert A. | en_US |
dc.date.accessioned | 2006-04-19T13:43:59Z | |
dc.date.available | 2006-04-19T13:43:59Z | |
dc.date.issued | 1998-01-06 | en_US |
dc.identifier.citation | Innis, Jeffrey W.; Sieving, Paul A.; McMillan, Pamella; Weatherly, Robert A. (1998)."Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions, and discolored teeth." American Journal of Medical Genetics 75(1): 13-17. <http://hdl.handle.net/2027.42/34648> | en_US |
dc.identifier.issn | 0148-7299 | en_US |
dc.identifier.issn | 1096-8628 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/34648 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=9450850&dopt=citation | en_US |
dc.description.abstract | We report on a family with early-onset sensorineural hearing loss, abnormal retinal pigment epithelium granularity, accumulation of creamy-white lesions at the level of the retinal pigment epithelium particularly superior to the arcade, and selective discoloration (brown) of molars or canine deciduous teeth that follows an apparent autosomal recessive inheritance pattern. This appears to be a new syndrome that can be distinguished from the known otodental, oculo-acoustic and flecked retina syndromes by the occurrence of distinct dental and ocular abnormalities. Am. J. Med. Genet. 75:13–17, 1998. © 1998 Wiley-Liss, Inc. | en_US |
dc.format.extent | 281134 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | John Wiley & Sons, Inc. | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Apparently new syndrome of sensorineural hearing loss, retinal pigment epithelium lesions, and discolored teeth | 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 | Department of Pediatrics, University of Michigan, Ann Arbor, Michigan ; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan ; University of Michigan, Department of Human Genetics, M4708 Medical Science II, Ann Arbor, MI 48109-0618. | en_US |
dc.contributor.affiliationum | Department of Otolaryngology, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Otolaryngology, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationother | Department of Ophthalmology, Univerisity of Michigan, Ann Arbor, Michigan | en_US |
dc.identifier.pmid | 9450850 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/34648/1/4_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/(SICI)1096-8628(19980106)75:1<13::AID-AJMG4>3.0.CO;2-R | en_US |
dc.identifier.source | American Journal of Medical Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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