Next-generation sequencing reveals a case of Norrie disease in a child with bilateral ocular malformation.

Li, Haijun; Li, Zhiming; Wang, Degang; Chen, Chuanming; Chen, Zhiqiang; Wang, Jinhua; Xu, Chenxia; Dong, Xingsheng

Li, Haijun; Li, Zhiming; Wang, Degang; Chen, Chuanming; Chen, Zhiqiang; Wang, Jinhua; Xu, Chenxia; Dong, Xingsheng.

Afiliación

Li H; Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, GD, China.
Li Z; Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, GD, China.
Wang D; Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, GD, China.
Chen C; Radiological Department, Boai Hospital of Zhongshan, Zhongshan, GD, China.
Chen Z; Pathology Department, Boai Hospital of Zhongshan, Zhongshan, GD, China.
Wang J; Gynaecology Department, Boai Hospital of Zhongshan, Zhongshan, GD, China.
Xu C; Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, GD, China.
Dong X; Prenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, GD, China.

Front Genet ; 13: 870232, 2022.

Article en En | MEDLINE | ID: mdl-36035112

Palabras clave

NDP; Norrie disease; genetic; next-generation sequencing; variant

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Genet Año: 2022 Tipo del documento: Article País de afiliación: China

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