YYÜ GCRIS Basic veritabanının içerik oluşturulması ve kurulumu Research Ecosystems (https://www.researchecosystems.com) tarafından devam etmektedir. Bu süreçte gördüğünüz verilerde eksikler olabilir.
 

Alström Syndrome With Acanthosis Nigricans: a Case Report and Literature Review

Simple item page
dc.authorscopusid 56220714100
dc.authorscopusid 17134049200
dc.authorscopusid 54787448800
dc.authorscopusid 6506372343
dc.authorscopusid 8941649100
dc.authorscopusid 7006019470
dc.authorscopusid 7006019470
dc.contributor.author Akdeniz, N.
dc.contributor.author Gunes Bilgili, S.
dc.contributor.author Aktar, S.
dc.contributor.author Yuca, S.
dc.contributor.author Calka, O.
dc.contributor.author Kilic, A.
dc.contributor.author Kosem, M.
dc.date.accessioned 2025-05-10T16:43:02Z
dc.date.available 2025-05-10T16:43:02Z
dc.date.issued 2011
dc.department T.C. Van Yüzüncü Yıl Üniversitesi en_US
dc.department-temp Akdeniz N., Yüzüncü Yil University, Faculty of Medicine, Department of Dermatology, 65200, Van, Turkey; Gunes Bilgili S., Yüzüncü Yil University, Faculty of Medicine, Department of Dermatology, 65200, Van, Turkey; Aktar S., Yüzüncü Yil University, Faculty of Medicine, Department of Dermatology, 65200, Van, Turkey; Yuca S., Department of Pediatrics, Yüzüncü Yil University, Faculty of Medicine, Van, Turkey; Calka O., Yüzüncü Yil University, Faculty of Medicine, Department of Dermatology, 65200, Van, Turkey; Kilic A., Department of Ophthalmology, Yüzüncü Yil University, Faculty of Medicine, Van, Turkey; Kosem M., Department of Pathology, Yüzüncü Yil University, Faculty of Medicine, Van, Turkey en_US
dc.description.abstract Alström syndrome (AS) is a very rare autosomal recessively inherited disorder that can lead to infantile-onset dilated cardiomyopathy, blindness, hearing impairment, obesity, diabetes, hepatic and renal dysfunction. AS is caused by mutations in the ALMS1 gene, which is located at chromosome 2p13. The life span of patients with AS rarely goes beyond an age of 40 years. There is no specific therapy for AS, but early diagnosis and intervention may moderate the progression of the disease and may improve the length and quality of the patient's life. We report a 10 year-old boy presenting with Alström Syndrome and acanthosis nigricans. en_US
dc.identifier.endpage 400 en_US
dc.identifier.issn 1015-8146
dc.identifier.issue 4 en_US
dc.identifier.pmid 22303800
dc.identifier.scopus 2-s2.0-84855985468
dc.identifier.scopusquality N/A
dc.identifier.startpage 393 en_US
dc.identifier.uri https://hdl.handle.net/20.500.14720/24
dc.identifier.volume 22 en_US
dc.identifier.wosquality N/A
dc.language.iso en en_US
dc.relation.ispartof Genetic Counseling en_US
dc.relation.publicationcategory Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı en_US
dc.rights info:eu-repo/semantics/closedAccess en_US
dc.subject Acanthosis Nigricans en_US
dc.subject Alström Syndrome en_US
dc.subject Child en_US
dc.subject Childhood Obesity en_US
dc.subject Genetic Disorder en_US
dc.title Alström Syndrome With Acanthosis Nigricans: a Case Report and Literature Review en_US
dc.type Article en_US

Files

Collections

Scopus İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu