Case Study of Bardet-Biedl Syndrome with Fetal Lobulation and Focal Segmental Glomerulosclerosis

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dc.authorwosidTabel, Yilmaz/AAF-9801-2020
dc.contributor.authorTabel, Yilmaz
dc.contributor.authorAkin, Like Mungan
dc.contributor.authorKaradag, Nese
dc.contributor.authorAkinci, Ayflehan
dc.date.accessioned2024-08-04T20:57:20Z
dc.date.available2024-08-04T20:57:20Z
dc.date.issued2008
dc.departmentİnönü Üniversitesien_US
dc.description.abstractBardet-Biedl syndrome is a genetic autosomal recessive disease characterized by abdominal obesity, mental retardation, dysmorphic extremities, retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism, and kidney involvement. Patients with renal involvement may present with both structural and functional abnormalities. Here, we present a 15-year-old male with Bardet-Biedl syndrome who has both fetal lobulation, a rare type of structural abnormality, and focal segmental glomerulosclerosis, having not been reported before.en_US
dc.identifier.endpage34en_US
dc.identifier.issn1301-2193
dc.identifier.issue1en_US
dc.identifier.startpage32en_US
dc.identifier.urihttps://hdl.handle.net/11616/102542
dc.identifier.volume12en_US
dc.identifier.wosWOS:000217291500009en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofTurkish Journal of Endocrinology and Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectBardet-Biedl syndromeen_US
dc.subjectchildhooden_US
dc.subjectfocal segmental glomerulosclerosisen_US
dc.subjectkidneyen_US
dc.titleCase Study of Bardet-Biedl Syndrome with Fetal Lobulation and Focal Segmental Glomerulosclerosisen_US
dc.typeArticleen_US

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