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Progressive hemifacial atrophy with characteristic ocular manifestations in a Chinese patient with a CRB1 mutation

Progressive hemifacial atrophy (PHA) is mainly characterized by asymmetrical atrophy of craniofacial tissue; however, 10% to 30% of patients with PHA exhibit ocular manifestations. Here, we describe abnormal ocular findings in a Chinese patient with PHA. The patient was a 29-year-old Chinese man. Ch...

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Detalles Bibliográficos
Autores principales: Liu, Jinghua, Liu, Ying, Wang, Liming, Zhang, Xiaohan, Hao, Peng, Li, Xuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7221477/
https://www.ncbi.nlm.nih.gov/pubmed/32351147
http://dx.doi.org/10.1177/0300060520910635