A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus

Qian, T., Chen, C., Li, C., Gong, Q., Liu, K., Wang, G., Schrauwen, I., & Xu, X. (2021). A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus. BMC Ophthalmology, 21(1). https://doi.org/10.1186/s12886-021-02120-0
Authors:
Tianwei Qian
Chong Chen
Caihua Li
Qiaoyun Gong
Kun Liu
Gao Wang
Isabelle Schrauwen
Xun Xu
Affiliated Authors:
Tianwei Qian
Gao Wang
Isabelle Schrauwen
Columbia Affiliation:
Author Keywords:
congenital aniridia
copy number variant
deletion
pax6
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Publication Type:
Article
Unique ID:
10.1186/s12886-021-02120-0
PMID:
34610801
DOI:
10.1186/s12886-021-02120-0
Journal:
BMC Ophthalmology
Publication Date:
Data Source:
Scopus
Source Link:
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