Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.

DeMille, Desiree; Carlston, Colleen M; Tam, Oliver H; Palumbos, Janice C; Stalker, Heather J; Mao, Rong; Zori, Roberto T; Viskochil, David H; Park, Albert H; Carey, John C

DeMille, Desiree; Carlston, Colleen M; Tam, Oliver H; Palumbos, Janice C; Stalker, Heather J; Mao, Rong; Zori, Roberto T; Viskochil, David H; Park, Albert H; Carey, John C.

Afiliação

DeMille D; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.
Carlston CM; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.
Tam OH; Department of Pathology, University of Utah, Salt Lake City, Utah.
Palumbos JC; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.
Stalker HJ; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.
Mao R; Division of Pediatric Genetics and Metabolism, University of Florida, Gainesville, Florida.
Zori RT; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah.
Viskochil DH; Department of Pathology, University of Utah, Salt Lake City, Utah.
Park AH; Division of Pediatric Genetics and Metabolism, University of Florida, Gainesville, Florida.
Carey JC; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.

Am J Med Genet A ; 176(4): 945-950, 2018 Apr.

Article em En | MEDLINE | ID: mdl-29575629

Assuntos

Conexina 26/genética; Surdez/genética; Genes Dominantes; Estudos de Associação Genética; Variação Genética; Criança; Pré-Escolar; Biologia Computacional/métodos; Conexina 26/química; Surdez/diagnóstico; Feminino; Humanos; Padrões de Herança; Masculino; Modelos Moleculares; Fenótipo; Conformação Proteica; Sequências de Repetição em Tandem

Palavras-chave

GJB2; autosomal dominant hearing loss; connexin 26; keratoderma; leukonychia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Surdez / Estudos de Associação Genética / Conexina 26 / Genes Dominantes Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article

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