New variants of ALMS1 gene and familial Alström syndrome case series
Objectives: To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alström syndrome. Report: This paper is a multi-disciplinary diagnostic evaluation, with genetic and audiological analysis that aims to report two new v...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2024-05-01
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| Col·lecció: | Brazilian Journal of Otorhinolaryngology |
| Matèries: | |
| Accés en línia: | http://www.sciencedirect.com/science/article/pii/S180886942400017X |
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