Possible third case of Lin-Gettig syndrome
dc.contributor.author | Hedera, Peter | en_US |
dc.contributor.author | Innis, Jeffrey W. | en_US |
dc.date.accessioned | 2006-04-19T13:44:32Z | |
dc.date.available | 2006-04-19T13:44:32Z | |
dc.date.issued | 2002-07-15 | en_US |
dc.identifier.citation | Hedera, Peter; Innis, Jeffrey W. (2002)."Possible third case of Lin-Gettig syndrome." American Journal of Medical Genetics 110(4): 380-383. <http://hdl.handle.net/2027.42/34660> | en_US |
dc.identifier.issn | 0148-7299 | en_US |
dc.identifier.issn | 1096-8628 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/34660 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=12116213&dopt=citation | en_US |
dc.description.abstract | We report a patient with craniosynostosis, severe mental retardation, absence of the corpus callosum, camptodactyly, hypogonadism, and ventricular septal defect. We propose that he has Lin-Gettig syndrome and that he is the third reported patient with this entity. Our patient also had additional phenotypic features, including palatal cleft and absent rapid eye movement (REM) sleep that were not present in the two previously described patients with this syndrome. High-resolution karyotype and subtelomeric fluorescence in situ hybridization (FISH) for cryptic telomeric rearrangement were normal. The existence of an unrelated patient with Lin-Gettig syndrome supports that this is a separate and distinct clinical entity. © 2002 Wiley-Liss, Inc. | en_US |
dc.format.extent | 104525 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 | Possible third case of Lin-Gettig syndrome | 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, Division of Genetics, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, Michigan ; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan ; Department of Human Genetics, 4811 Med Sciences II, Box 0618, 1500 E. Medical Center Drive, Ann Arbor, MI 48109-0618. | en_US |
dc.identifier.pmid | 12116213 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/34660/1/10460_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/ajmg.10460 | en_US |
dc.identifier.source | American Journal of Medical Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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