| Autor: |
N, Akdeniz, S Gunes, Bilgili, S, Aktar, S, Yuca, O, Calka, A, Kilic, M, Kosem |
| Rok vydání: |
2012 |
| Předmět: |
|
| Zdroj: |
Genetic counseling (Geneva, Switzerland). 22(4) |
| ISSN: |
1015-8146 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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