Alström Syndrome With Acanthosis Nigricans: a Case Report and Literature Review
| 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.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.issn | 1015-8146 | |
| dc.identifier.scopus | 2-s2.0-84855985468 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14720/24 | |
| dc.language.iso | en | en_US |
| dc.relation.ispartof | Genetic Counseling | 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 |
| dspace.entity.type | Publication | |
| gdc.author.scopusid | 56220714100 | |
| gdc.author.scopusid | 17134049200 | |
| gdc.author.scopusid | 54787448800 | |
| gdc.author.scopusid | 6506372343 | |
| gdc.author.scopusid | 8941649100 | |
| gdc.author.scopusid | 7006019470 | |
| gdc.author.scopusid | 7006019470 | |
| gdc.coar.access | metadata only access | |
| gdc.coar.type | text::journal::journal article | |
| gdc.description.department | T.C. Van Yüzüncü Yıl Üniversitesi | en_US |
| gdc.description.departmenttemp | 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 |
| gdc.description.endpage | 400 | en_US |
| gdc.description.issue | 4 | en_US |
| gdc.description.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| gdc.description.scopusquality | N/A | |
| gdc.description.startpage | 393 | en_US |
| gdc.description.volume | 22 | en_US |
| gdc.description.wosquality | N/A | |
| gdc.identifier.pmid | 22303800 | |
| gdc.index.type | Scopus | |
| gdc.index.type | PubMed |