Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.

Tesolin, Paola; Fiorino, Sofia; Lenarduzzi, Stefania; Rubinato, Elisa; Cattaruzzi, Elisabetta; Ammar, Lydie; Castro, Veronica; Orzan, Eva; Granata, Claudio; Dell'Orco, Daniele; Morgan, Anna; Girotto, Giorgia

Tesolin, Paola; Fiorino, Sofia; Lenarduzzi, Stefania; Rubinato, Elisa; Cattaruzzi, Elisabetta; Ammar, Lydie; Castro, Veronica; Orzan, Eva; Granata, Claudio; Dell'Orco, Daniele; Morgan, Anna; Girotto, Giorgia.

Afiliação

Tesolin P; Department of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.
Fiorino S; Department of Life Sciences, University of Trieste, 34127 Trieste, Italy.
Lenarduzzi S; Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, 34127 Trieste, Italy.
Rubinato E; Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, 34127 Trieste, Italy.
Cattaruzzi E; Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, 34127 Trieste, Italy.
Ammar L; Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, 34127 Trieste, Italy.
Castro V; Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, 34127 Trieste, Italy.
Orzan E; Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, 34127 Trieste, Italy.
Granata C; Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, 34127 Trieste, Italy.
Dell'Orco D; Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, 37129 Verona, Italy.
Morgan A; Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, 34127 Trieste, Italy.
Girotto G; Department of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy.

Genes (Basel) ; 12(10)2021 10 01.

Article em En | MEDLINE | ID: mdl-34680964

Assuntos

Bócio Nodular/genética; Perda Auditiva Neurossensorial/genética; Miosina Tipo V/genética; Transportadores de Sulfato/genética; Adolescente; Adulto; Criança; Pré-Escolar; Feminino; Estudos de Associação Genética; Predisposição Genética para Doença; Bócio Nodular/epidemiologia; Bócio Nodular/patologia; Haplótipos/genética; Perda Auditiva Neurossensorial/epidemiologia; Perda Auditiva Neurossensorial/patologia; Humanos; Lactente; Masculino; Mutação; Sequenciamento do Exoma; Adulto Jovem

Palavras-chave

Pendred syndrome; Whole-Exome Sequencing; genotype-phenotype correlation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miosina Tipo V / Transportadores de Sulfato / Bócio Nodular / Perda Auditiva Neurossensorial Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genes (Basel) Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália

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