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dc.contributor.authorTolun, A.
dc.contributor.authorSeven, M.
dc.contributor.authorGuven, A.
dc.contributor.authorBozoglu, T. M.
dc.date.accessioned2021-03-02T22:25:56Z
dc.date.available2021-03-02T22:25:56Z
dc.date.issued2015
dc.identifier.citationSeven M., Guven A., Bozoglu T. M. , Tolun A., "DETECTING PORCN MICRODELETIONS IN A LARGE FAMILY WITH FOCAL DERMAL HYPOPLASIA", GENETIC COUNSELING, cilt.26, sa.2, ss.195-204, 2015
dc.identifier.issn1015-8146
dc.identifier.otherav_0c9e2ec1-8e94-4ea7-81b2-cddfca7d2260
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/14125
dc.description.abstractDetecting PORCN microdeletions in a large family with focal dermal hypoplasia: Focal dermal hypoplasia (FDH), an X-linked dominant disease with a highly variable phenotype, presents mainly with congenital linear pigmentation of the skin, herniation of fat through the dermal defects and multiple papillomas. PORCN microdeletions are identified in a total of 12 FDH patients to date. Routine molecular methods for detecting microdeletions have proven not to be effective, as patients also carry a normal allele. Additionally, methods using copy number estimations are labor-intensive, time-consuming and require expensive equipment. With respect to the molecular diagnosis of FDH, we aimed to investigate the inheritance of maternal disease allele in a three-generation FDH pedigree with seven affected members by using a simple yet efficient method. The strategy used in this study appeared to have the benefit of detecting all PORCN micro-deletions identified for FDH so far. The family with the largest number of related patients reported to date presented an opportunity to evaluate clinical variability, which was high, with the least affected and the most severely affected patients being half-sisters. The extensive intra-familial phenotypic variability observed in this FDH family suggests that genetic counselling should be part of management of this syndrome even in a family with a very mild case. The unique finding of IgA deficiency in the most severe case indicated that the feature could be a new characteristic of FDH.
dc.language.isoeng
dc.subjectYaşam Bilimleri
dc.subjectBİYOTEKNOLOJİ VE UYGULAMALI MİKROBİYOLOJİ
dc.subjectMikrobiyoloji
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTIBBİ ETİK
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTIP, ARAŞTIRMA VE DENEYSEL
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectTemel Tıp Bilimleri
dc.subjectTıp Eğitimi
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectTıbbi Ekoloji ve Hidroklimatoloji
dc.subjectBiyoteknoloji
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.titleDETECTING PORCN MICRODELETIONS IN A LARGE FAMILY WITH FOCAL DERMAL HYPOPLASIA
dc.typeMakale
dc.relation.journalGENETIC COUNSELING
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume26
dc.identifier.issue2
dc.identifier.startpage195
dc.identifier.endpage204
dc.contributor.firstauthorID219700


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