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Late-onset hearing loss case associated with a heterozygous truncating variant of DIAPH1.
Kim, Bong Jik; Miyoshi, Takushi; Chaudhry, Taimur; Friedman, Thomas B; Choi, Byung Yoon; Ueyama, Takehiko.
Afiliação
  • Kim BJ; Department of Otolaryngology-Head and Neck Surgery, Chungnam National University College of Medicine, Chungnam National University Sejong Hospital, Sejong, Republic of Korea.
  • Miyoshi T; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
  • Chaudhry T; Department of Otolaryngology - Head and Neck Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
  • Choi BY; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
  • Ueyama T; Department of Otorhinolaryngology, Seoul National University Bundang Hospital, Seongnam, Republic of Korea.
Clin Genet ; 101(4): 466-471, 2022 04.
Article em En | MEDLINE | ID: mdl-35060117

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Forminas / Perda Auditiva / Perda Auditiva Neurossensorial Tipo de estudo: Risk_factors_studies Limite: Aged / Female / Humans Idioma: En Revista: Clin Genet Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Forminas / Perda Auditiva / Perda Auditiva Neurossensorial Tipo de estudo: Risk_factors_studies Limite: Aged / Female / Humans Idioma: En Revista: Clin Genet Ano de publicação: 2022 Tipo de documento: Article