https://scholars.lib.ntu.edu.tw/handle/123456789/194725
DC Field | Value | Language |
---|---|---|
dc.contributor | 小兒科 | en |
dc.contributor.author | HOU, JIA-WOEI | en |
dc.contributor.author | WANG, TSO-REN | en |
dc.creator | 侯家瑋;王作仁 | zh-tw |
dc.creator | HOU, JIA-WOEI;WANG, TSO-REN | en |
dc.date | 1995 | en |
dc.date.accessioned | 2008-12-10T08:56:20Z | - |
dc.date.accessioned | 2018-07-11T17:52:03Z | - |
dc.date.available | 2008-12-10T08:56:20Z | - |
dc.date.available | 2018-07-11T17:52:03Z | - |
dc.date.issued | 1995 | - |
dc.identifier.uri | http://ntur.lib.ntu.edu.tw//handle/246246/90508 | - |
dc.description.abstract | The neonatal progeroid syndrome (NPS) was characterized by Wiedemann. NPS differs from the well-known Hutchinson- Gilford progeria, which is not apparent at birth. We report on a Chinese infant girl with a progeroid appearance, multiple anomalies, and severe growth retardation since birth. Thus, our patient has the phenotype of Wiedemann- Reutenstrauch syndrome without intrauterine growth retardation (IUGR ), but with laryngomalacia, camptodactyly, and recurrent skin infection. Our patient brings further evidence of autosomal-recessive inheritance and suggests clinical variability.#1914# | en |
dc.language | en-us | en |
dc.language.iso | en_US | - |
dc.relation | AMERICAN JOURNAL OF MEDICAL GENETICS v.58 n.2 pp.195-196 | en |
dc.relation.ispartof | AMERICAN JOURNAL OF MEDICAL GENETICS | - |
dc.title | Clinical Variability in Neonatal Progeroid Syndrome | en |
dc.type | journal article | en |
dc.relation.pages | 195-196 | - |
dc.relation.journalvolume | v.58 | - |
dc.relation.journalissue | n.2 | - |
item.languageiso639-1 | en_US | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | none | - |
item.fulltext | no fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.openairetype | journal article | - |
Appears in Collections: | 醫學系 |
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