Alstrom Syndrome With Acanthosis Nigricans: a Case Report and Literature Review
| dc.authorwosid | Kösem, Mustafa/Jce-7269-2023 | |
| dc.authorwosid | Akdeniz, Necmettin/J-9325-2013 | |
| dc.contributor.author | Akdeniz, N. | |
| dc.contributor.author | Bilgili, S. Gunes | |
| 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 | 2025-05-10T17:48:07Z | |
| dc.date.available | 2025-05-10T17:48:07Z | |
| dc.date.issued | 2011 | |
| dc.department | T.C. Van Yüzüncü Yıl Üniversitesi | en_US |
| dc.department-temp | [Akdeniz, N.; Bilgili, S. Gunes; Aktar, S.; Calka, O.] Yuzuncu Yil Univ, Dept Dermatol, Fac Med, TR-65200 Van, Turkey; [Yuca, S.] Yuzuncu Yil Univ, Dept Pediat, Fac Med, TR-65200 Van, Turkey; [Kilic, A.] Yuzuncu Yil Univ, Dept Ophthalmol, Fac Med, TR-65200 Van, Turkey; [Kosem, M.] Yuzuncu Yil Univ, Dept Pathol, Fac Med, TR-65200 Van, Turkey | en_US |
| dc.description.abstract | Alstrom syndrome with acanthosis nigricans: a case report and literature review: Alstrom 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 ALMS I 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 Alstrom Syndrome and acanthosis nigricans. | en_US |
| dc.description.woscitationindex | Science Citation Index Expanded | |
| dc.identifier.endpage | 400 | en_US |
| dc.identifier.issn | 1015-8146 | |
| dc.identifier.issue | 4 | en_US |
| dc.identifier.pmid | 22303800 | |
| dc.identifier.scopusquality | N/A | |
| dc.identifier.startpage | 393 | en_US |
| dc.identifier.uri | https://hdl.handle.net/20.500.14720/16991 | |
| dc.identifier.volume | 22 | en_US |
| dc.identifier.wos | WOS:000299356300009 | |
| dc.identifier.wosquality | N/A | |
| dc.language.iso | en | en_US |
| dc.publisher | Medecine Et Hygiene | 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 | Alstrom Syndrome | en_US |
| dc.subject | Acanthosis Nigricans | en_US |
| dc.subject | Child | en_US |
| dc.subject | Childhood Obesity | en_US |
| dc.subject | Genetic Disorder | en_US |
| dc.title | Alstrom Syndrome With Acanthosis Nigricans: a Case Report and Literature Review | en_US |
| dc.type | Article | en_US |