A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23.

Koohiyan, Mahbobeh; Hashemzadeh-Chaleshtori, Morteza; Salehi, Mansoor; Abtahi, Hamidreza; Noori-Daloii, Mohammad Reza; Tabatabaiefar, Mohammad Amin

Koohiyan, Mahbobeh; Hashemzadeh-Chaleshtori, Morteza; Salehi, Mansoor; Abtahi, Hamidreza; Noori-Daloii, Mohammad Reza; Tabatabaiefar, Mohammad Amin.

Afiliación

Koohiyan M; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Hashemzadeh-Chaleshtori M; Cellular and Molecular Research Center, Basic Health Research Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Salehi M; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Abtahi H; Department of Otolaryngology, Al-Zahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
Noori-Daloii MR; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Tabatabaiefar MA; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran, tabatabaiefar@med.mui.ac.ir.

Audiol Neurootol ; 25(5): 258-262, 2020.

Article en En | MEDLINE | ID: mdl-32485727

Asunto(s)

Cadherinas/genética; Pérdida Auditiva Sensorineural/genética; Mutación; Fenotipo; Adulto; Proteínas Relacionadas con las Cadherinas; Niño; Femenino; Ligamiento Genético; Humanos; Masculino; Linaje

Palabras clave

Autosomal recessive disease; CDH23; Genetic linkage analysis; Iran; Next-generation sequencing; Nonsyndromic hearing loss

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Cadherinas / Pérdida Auditiva Sensorineural / Mutación Tipo de estudio: Guideline / Prognostic_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Audiol Neurootol Asunto de la revista: AUDIOLOGIA / PSICOFISIOLOGIA Año: 2020 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Suiza

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