A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.

Li, Sijun; Qin, Mengyao; Mao, Shuang; Mei, Lingyun; Cai, Xinzhang; Feng, Yong; He, Chufeng; Song, Jian

Li, Sijun; Qin, Mengyao; Mao, Shuang; Mei, Lingyun; Cai, Xinzhang; Feng, Yong; He, Chufeng; Song, Jian.

Afiliação

Li S; Department of Otorhinolaryngology, Xiangya Hospital Central South University, Changsha, Hunan, China.
Qin M; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha, Hunan, China.
Mao S; Department of Otorhinolaryngology, Xiangya Hospital Central South University, Changsha, Hunan, China.
Mei L; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha, Hunan, China.
Cai X; Department of Otolaryngology Head and Neck Surgery, The First People's Hospital of Changde City, Hunan, Changde, China.
Feng Y; Department of Otorhinolaryngology, Xiangya Hospital Central South University, Changsha, Hunan, China.
He C; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha, Hunan, China.
Song J; Department of Otorhinolaryngology, Xiangya Hospital Central South University, Changsha, Hunan, China.

BMC Med Genomics ; 15(1): 230, 2022 11 03.

Article em En | MEDLINE | ID: mdl-36329483

Assuntos

Síndrome de Waardenburg; Humanos; Síndrome de Waardenburg/genética; Síndrome de Waardenburg/diagnóstico; Estudos Retrospectivos; Linhagem; Fatores de Transcrição SOXE/genética; Genótipo; Mutação; Fenótipo; China

Palavras-chave

Genotype; Heterochromia iridis; Inner ear malformation; Phenotype; Unilateral hearing loss; Waardenburg syndrome

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Waardenburg Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans País como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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