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Br J Ophthalmol
; 107(10): 1403-1414, 2023 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36162969
RESUMO
Combined vision and hearing loss, also known as dual sensory impairment, can occur in several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome, mitochondrial DNA disorders and systemic diseases, such as CHARGE, Stickler, Waardenburg, Alport and Alstrom syndrome. The retinal phenotype may point to the diagnosis of such disorders. Herein, we aim to provide a comprehensive review of the molecular genetics and clinical features of the most common non-chromosomal inherited disorders to cause dual sensory impairment.
Assuntos
Síndrome de Bardet-Biedl , Surdocegueira , Humanos , Retina , Síndrome de Bardet-Biedl/diagnóstico , Síndrome de Bardet-Biedl/genética , Fenótipo , Biologia Molecular
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