A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1.

Guo, Min; Li, Qing; Jiang, Chaowu; Li, Shuling; Ruan, Biao

Guo, Min; Li, Qing; Jiang, Chaowu; Li, Shuling; Ruan, Biao.

Afiliação

Guo M; Kunming Medical University First Affilliated Hospital, 295 Xichang Road, Kunming, 650032, Yunnan, China.
Li Q; Kunming Medical University First Affilliated Hospital, 295 Xichang Road, Kunming, 650032, Yunnan, China.
Jiang C; Kunming Medical University First Affilliated Hospital, 295 Xichang Road, Kunming, 650032, Yunnan, China.
Li S; Kunming Medical University First Affilliated Hospital, 295 Xichang Road, Kunming, 650032, Yunnan, China. Electronic address: lishuling2020@hotmail.com.
Ruan B; Kunming Medical University First Affilliated Hospital, 295 Xichang Road, Kunming, 650032, Yunnan, China. Electronic address: ynent@163.com.

Int J Pediatr Otorhinolaryngol ; 147: 110758, 2021 Aug.

Article em En | MEDLINE | ID: mdl-34038854

Assuntos

Síndrome de Waardenburg; China; Feminino; Humanos; Mutação; Fator de Transcrição PAX3/genética; Linhagem; Síndrome de Waardenburg/genética

Palavras-chave

Autosomal dominant inheritance; Exon 2; PAX3; Waardenburg syndrome

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Waardenburg Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo

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PubMed Links

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Waardenburg Idioma: En Ano de publicação: 2021 Tipo de documento: Article