Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population.

Fedick, Anastasia M; Jalas, Chaim; Swaroop, Ananya; Smouha, Eric E; Webb, Bryn D

Fedick, Anastasia M; Jalas, Chaim; Swaroop, Ananya; Smouha, Eric E; Webb, Bryn D.

Afiliação

Fedick AM; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Jalas C; Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, NY, USA.
Swaroop A; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Smouha EE; Department of Otolaryngology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Webb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Appl Clin Genet ; 9: 141-6, 2016.

Article em En | MEDLINE | ID: mdl-27621663

Palavras-chave

Ashkenazi Jewish; OTOF; c.5332G>T; hearing loss; otoferlin; p.Val1778Phe

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Appl Clin Genet Ano de publicação: 2016 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google