[Identification and genetic analysis of new mutations in <i>EYA1</i> gene of BOS syndrome].

Ma, J; Huang, R; Ma, X L; Li, X; Zhang, T S; Ruan, B

[Identification and genetic analysis of new mutations in EYA1 gene of BOS syndrome].

Ma, J; Huang, R; Ma, X L; Li, X; Zhang, T S; Ruan, B.

Afiliação

Ma J; Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming Key Laboratory for Prevention and Control of Congenital Birth Defects of Children, Yunnan Key Laboratory of Children's Major Disease Research, Kunming 650228, China.
Huang R; Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming Key Laboratory for Prevention and Control of Congenital Birth Defects of Children, Yunnan Key Laboratory of Children's Major Disease Research, Kunming 650228, China.
Ma XL; Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming Key Laboratory for Prevention and Control of Congenital Birth Defects of Children, Yunnan Key Laboratory of Children's Major Disease Research, Kunming 650228, China.
Li X; Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming Key Laboratory for Prevention and Control of Congenital Birth Defects of Children, Yunnan Key Laboratory of Children's Major Disease Research, Kunming 650228, China.
Zhang TS; Department of Otorhinolaryngology Head and Neck Surgery, Kunming Children's Hospital, Kunming Key Laboratory for Prevention and Control of Congenital Birth Defects of Children, Yunnan Key Laboratory of Children's Major Disease Research, Kunming 650228, China.
Ruan B; Department of Otorhinolaryngology, the First Hospital of Kunming Medical University, Kunming 650032, China.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi ; 56(9): 966-971, 2021 Sep 07.

Article em Zh | MEDLINE | ID: mdl-34666446

Assuntos

Síndrome Brânquio-Otorrenal; Síndrome Brânquio-Otorrenal/genética; Análise Mutacional de DNA; Feminino; Testes Genéticos; Humanos; Peptídeos e Proteínas de Sinalização Intracelular/genética; Mutação; Proteínas Nucleares; Linhagem; Proteínas Tirosina Fosfatases/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome Brânquio-Otorrenal Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans Idioma: Zh Revista: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China

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