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Long-term Clinical Follow-up and Molecular Testing for Diagnosis of the First Tunisian Family with Alström Syndrome
Alström syndrome is a clinically complex disorder characterized by progressive degeneration of sensory functions, resulting in visual and audiological impairment as well as metabolic disturbances. It is caused by recessively inherited mutations in the ALMS1 gene, which codes for a centrosomal/basal...
में बचाया:
| में प्रकाशित: | Eur J Med Genet |
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| मुख्य लेखकों: | , , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
2016
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5335873/ https://ncbi.nlm.nih.gov/pubmed/27523285 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2016.08.004 |
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