Enlarged vestibular aqueduct: Looking for genotypic-phenotypic correlations

Enlarged vestibular aqueduct: Looking for genotypic-phenotypic correlations

The aim of this work is to provide a guide for clinical and genetic diagnosis and classification of the enlarged vestibular aqueduct syndrome based on a review of the literature and computerized databases with the words large and enlarged vestibular aqueduct. No more than 40 articles described assoc...

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Veröffentlicht in:European archives of oto-rhino-laryngology 2006-11, Vol.263 (11), p.971-976
Hauptverfasser: González-García, José Angel, Ibáñez, Andrés, Ramírez-Camacho, Rafael, Rodríguez, Antonio, García-Berrocal, José Ramón, Trinidad, Almudena
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Sprache:eng
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Genotype
Hearing Loss - genetics
Hearing Loss - pathology
Humans
Phenotype
Vestibular Aqueduct - abnormalities
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container_end_page 976
container_issue 11
container_start_page 971
container_title European archives of oto-rhino-laryngology
container_volume 263
creator González-García, José Angel
Ibáñez, Andrés
Ramírez-Camacho, Rafael
Rodríguez, Antonio
García-Berrocal, José Ramón
Trinidad, Almudena
description The aim of this work is to provide a guide for clinical and genetic diagnosis and classification of the enlarged vestibular aqueduct syndrome based on a review of the literature and computerized databases with the words large and enlarged vestibular aqueduct. No more than 40 articles described association between the EVA phenotype and a known genetic alteration. Pendred's syndrome, distal renal tubular acidosis, waardenburg's syndrome, X-linked congenital mixed deafness, branchio-oto-renal syndrome, and oto-facio-cervical syndrome can express their genotypic alteration as enlarged vestibular aqueduct syndrome. We also found articles reporting familiar cases of enlarged vestibular aqueduct with no identified mutations in studied genes.
doi_str_mv 10.1007/s00405-006-0095-x
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subjects Genotype
Hearing Loss - genetics
Hearing Loss - pathology
Humans
Phenotype
Vestibular Aqueduct - abnormalities
title Enlarged vestibular aqueduct: Looking for genotypic-phenotypic correlations
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