dc.contributor.author | Levy, Nicolas | |
dc.contributor.author | Yesil, Gözde | |
dc.contributor.author | Esteves-Vieira, Vera | |
dc.contributor.author | De Sandre-Giovannoli, Annachiara | |
dc.contributor.author | Tuysu, Beyhan | |
dc.contributor.author | Hatipoglu, Ihan | |
dc.date.accessioned | 2021-03-04T17:50:51Z | |
dc.date.available | 2021-03-04T17:50:51Z | |
dc.date.issued | 2011 | |
dc.identifier.citation | Yesil G., Hatipoglu I., Esteves-Vieira V., Levy N., De Sandre-Giovannoli A., Tuysu B., "Restrictive dermopathy in a Turkish newborn", Pediatric Dermatology, cilt.28, ss.408-411, 2011 | |
dc.identifier.issn | 0736-8046 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_878db6ec-0d37-4adc-8766-07b6afa0f917 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/92075 | |
dc.identifier.uri | https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=79960770502&origin=inward | |
dc.identifier.uri | https://doi.org/10.1111/j.1525-1470.2010.01296.x | |
dc.description.abstract | A 4-day-old boy presented with tight, translucent skin, prominent vessels, skin erosions, and dysmorphic findings, including hypertelorism, antimongoloid axis, sparse eyelashes and eyebrows, pinched nose, natal teeth, microretrognathia, and an "o-shaped" mouth. Multiple joint contractures, dysplastic clavicles, and thin ribs were also observed. He died at 2 weeks of age of respiratory distress. The patient was diagnosed as being affected with restrictive dermopathy, which is a rare, lethal genodermatosis caused by recessive mutations of the zinc metalloproteinase ZMPSTE24 gene or less frequently, by dominant lamin A/C gene mutations. Direct sequencing of the ZMPSTE24 gene was performed, and the most common, homozygous, inactivating mutation in exon 9 was identified in the patient (c.1085_1086insT; p.Leu362PhefsX19). Autosomal recessive transmission was confirmed by parental DNA analysis. After genetic counseling, a prenatal diagnosis could be performed during the subsequent pregnancy. ZMPSTE24 screening was performed by direct sequencing and fluorescent fragment analysis on DNA derived from a chorionic villus sample after exclusion of maternal contamination. The fetus had inherited both normal parental alleles, avoiding the recurrence of the disease. | |
dc.language.iso | eng | |
dc.subject | Çocuk Sağlığı ve Hastalıkları | |
dc.subject | Dermatoloji | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Tıp | |
dc.subject | PEDİATRİ | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Klinik Tıp | |
dc.subject | DERMATOLOJİ | |
dc.title | Restrictive dermopathy in a Turkish newborn | |
dc.type | Makale | |
dc.relation.journal | Pediatric Dermatology | |
dc.contributor.department | Tokat Gaziosmanpaşa Üniversitesi , , | |
dc.identifier.volume | 28 | |
dc.identifier.issue | 4 | |
dc.identifier.startpage | 408 | |
dc.identifier.endpage | 411 | |
dc.contributor.firstauthorID | 201187 | |