Clinical and genetic studies of 17 Han Chinese pedigrees and 31 sporadic patients with blepharophimosis-ptosis-epicanthus inversus syndrome

PURPOSE: To investigate the molecular pathogenesis of a large group of Han Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), and to evaluate the correlation between the phenotype and genotype for these patients. METHODS: Seventy-six affected individuals, including 45...

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Detalles Bibliográficos
Autores principales: Wang, Yuan, Wu, Qian, Cao, Wenhong, Huang, Lijuan, Liu, Wen, Li, Cheng, Li, Ningdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9603904/
https://www.ncbi.nlm.nih.gov/pubmed/36338666

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