Identification and functional study of FOXC1 variants in Chinese families with glaucoma.

Wang, Xinyao; Liu, Xiangyuan; Li, Yuying; Yang, Bo; Sun, Xuejiao; Yang, Peng; Zhong, Zilin; Chen, Jianjun

Wang, Xinyao; Liu, Xiangyuan; Li, Yuying; Yang, Bo; Sun, Xuejiao; Yang, Peng; Zhong, Zilin; Chen, Jianjun.

Afiliación

Wang X; Birth Defect Group, Clinical Research Center for Mental Disorders, Shanghai Pudong New Area Mental Health Center, School of Medicine, Tongji University, Shanghai, China.
Liu X; Department of Medical Genetics, School of Medicine, Tongji University, Shanghai, China.
Li Y; Birth Defect Group, Clinical Research Center for Mental Disorders, Shanghai Pudong New Area Mental Health Center, School of Medicine, Tongji University, Shanghai, China.
Yang B; Department of Medical Genetics, School of Medicine, Tongji University, Shanghai, China.
Sun X; Birth Defect Group, Clinical Research Center for Mental Disorders, Shanghai Pudong New Area Mental Health Center, School of Medicine, Tongji University, Shanghai, China.
Yang P; Department of Medical Genetics, School of Medicine, Tongji University, Shanghai, China.
Zhong Z; Clinical and Translational Research Center of Shanghai First Maternity and Infant Hospital, Shanghai Key Laboratory of Signaling and Disease Research, School of Life Sciences and Technology, Tongji University, Shanghai, China.
Chen J; Birth Defect Group, Clinical Research Center for Mental Disorders, Shanghai Pudong New Area Mental Health Center, School of Medicine, Tongji University, Shanghai, China.

Am J Med Genet A ; 188(2): 540-547, 2022 02.

Article en En | MEDLINE | ID: mdl-34741396

Asunto(s)

Anomalías del Ojo; Glaucoma; Segmento Anterior del Ojo/anomalías; China/epidemiología; Anomalías del Ojo/genética; Factores de Transcripción Forkhead/genética; Glaucoma/genética; Humanos; Mutación Missense/genética

Palabras clave

Axenfeld-Rieger syndrome; FOXC1; functional study; glaucoma; variant

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías del Ojo / Glaucoma Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: China

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