https://scholars.lib.ntu.edu.tw/handle/123456789/381255
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | HUNG-CHI LUE | en |
dc.creator | Lu, C.-S.;Wu, S.-C.;Hou, J.-W.;Chu, C.-P.;Tseng, L.-L.;Lue, H.-C. | - |
dc.date.accessioned | 2018-09-10T09:50:10Z | - |
dc.date.available | 2018-09-10T09:50:10Z | - |
dc.date.issued | 2013 | - |
dc.identifier.uri | http://www.scopus.com/inward/record.url?eid=2-s2.0-84877875734&partnerID=MN8TOARS | - |
dc.identifier.uri | http://scholars.lib.ntu.edu.tw/handle/123456789/381255 | - |
dc.description.abstract | Restrictive dermopathy (RD) is a rare and lethal autosomal recessive syndrome characterized by very tight, thin, and easily eroded skin and contracture of joints. We present two siblings in a family. Case 1, a female neonate, showed mild characteristic presentations of RD and survived for 16 days, and Case 2, a male neonate, was stillborn with typical severe features of RD. His skin biopsy showed typical histological findings, and genetic study revealed a homozygous nonsense mutation on the exon 6 of zinc metalloproteinase STE24 (ZMPSTE24). The exact pathogenic mechanism of RD remains poorly understood. The most recent studies on mutations in lamin A and/or ZMPSTE24 have shed some light on the pathophysiology of RD and may help direct the development of future therapeutic approaches. Copyright ? 2012, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC. All rights reserved. | - |
dc.language | en | en |
dc.relation.ispartof | Pediatrics and Neonatology | en_US |
dc.source | AH-Scopus to ORCID | - |
dc.subject | congenital anomaly; genetic analysis; restrictive dermopathy; ZMPSTE24 gene | - |
dc.subject.classification | [SDGs]SDG3 | - |
dc.subject.other | hydrocortisone acetate; metalloproteinase; petrolatum; zinc; anemia; article; atelectasis; bradycardia; breech presentation; case report; cesarean section; child hospitalization; clavicle; clinical feature; congenital malformation; contracture; cyanosis; disseminated intravascular clotting; ectropion; esophagus hemorrhage; exon; eyebrow; eyelash; female; fetus distress; genetic analysis; heterozygote; histopathology; homozygote; human; human tissue; hyperkeratosis; hypoplasia; inguinal region; karyotype 46,XX; karyotype 46,XY; laceration; low set ear; lung congestion; male; metabolic acidosis; micrognathia; newborn; newborn intensive care; nonsense mutation; patent ductus arteriosus; patent foramen ovale; pathogenicity; radiodiagnosis; respiratory distress syndrome; restrictive dermopathy; sibling; skin biopsy; skin care; skin defect; skin disease; stillbirth; stop codon; subarachnoid space; wound dehiscence; Contracture; Female; Humans; Infant, Newborn; Lamin Type A; Male; Membrane Proteins; Metalloendopeptidases; Mutation; Siblings; Skin Abnormalities | - |
dc.title | Restrictive dermopathy: Report of two siblings | - |
dc.type | journal article | en |
dc.identifier.doi | 10.1016/j.pedneo.2012.11.012 | - |
dc.relation.pages | 198-201 | - |
dc.relation.journalvolume | 54 | - |
dc.relation.journalissue | 3 | - |
item.cerifentitytype | Publications | - |
item.fulltext | no fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.openairetype | journal article | - |
item.grantfulltext | none | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.orcid | 0000-0002-4138-5192 | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。