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:
Subjects:
Notch Signaling Pathway in Development and Disease (OpenAlex Topic)
Structure and Function of Gap Junctions and Connexins (OpenAlex Topic)
Cataract Surgery Techniques and Complications (OpenAlex Topic)
Aniridia (MeSH)
Cataract (MeSH)
Eye Proteins (MeSH)
PAX6 Transcription Factor (MeSH)
Author Keywords:
congenital aniridia
pax6
deletion
copy number variant
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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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Record Created: