Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir.

Kuchay, Raja A H; Mir, Yaser Rafiq; Zeng, Xue; Hassan, Asima; Namba, Kazunori; Tekin, Mustafa

Kuchay, Raja A H; Mir, Yaser Rafiq; Zeng, Xue; Hassan, Asima; Namba, Kazunori; Tekin, Mustafa.

Afiliação

Kuchay RAH; Department of Biotechnology, Baba Ghulam Shah Badshah University, Rajouri, J&K, India. Electronic address: kuchay_bgsbu@yahoo.com.
Mir YR; Department of Biotechnology, Baba Ghulam Shah Badshah University, Rajouri, J&K, India.
Zeng X; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
Hassan A; Department of Ophthalmology, Government Medical College, Srinagar, J&K, India.
Namba K; Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Japan.
Tekin M; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.

Int J Pediatr Otorhinolaryngol ; 130: 109831, 2020 Mar.

Article em En | MEDLINE | ID: mdl-31875531

Assuntos

Surdez/genética; Proteínas de Membrana/genética; Mutação/genética; Criança; Consanguinidade; Feminino; Humanos; Índia; Masculino; Linhagem; Sequenciamento do Exoma

Palavras-chave

Hearing loss; J&K; Nonsyndromic; OTOF; Tribal consanguinity

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Surdez / Proteínas de Membrana / Mutação Limite: Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Int J Pediatr Otorhinolaryngol Ano de publicação: 2020 Tipo de documento: Article

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