CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma

Yu-Chuan Kang, E., Wang, N.-K., & Wu, W.-C. (2022). CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma. American Journal of Ophthalmology Case Reports, 25, 101352. https://doi.org/10.1016/j.ajoc.2022.101352
Authors:
Eugene Yu-Chuan Kang
Nan-Kai Wang
Wei-Chi Wu
Affiliated Authors:
Nan-Kai Wang
Columbia Affiliation:
Author Keywords:
charge syndrome
coloboma
retinal detachment
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Publication Type:
Article
Unique ID:
10.1016/j.ajoc.2022.101352
PMID:
35243138
DOI:
10.1016/j.ajoc.2022.101352
Journal:
American Journal of Ophthalmology Case Reports
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created: