A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature

Chiu, N., Lee, W., Liu, P.-K., Levi, S. R., Wang, H.-H., Chen, N., Kang, E. Y.-C., Seo, G. H., Lee, H., Liu, L., Wu, W.-C., Tsai, S. H., & Wang, N.-K. (2021). A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature. Ophthalmic Genetics, 43(3), 378–384. https://doi.org/10.1080/13816810.2021.2010773
Authors:
Ning Chiu
Winston Lee
Pei-Kang Liu
Sarah R Levi
Hung-Hsi Wang
Nelson Chen
Eugene Yu-Chuan Kang
Go Hun Seo
Hane Lee
Laura Liu
Wei-Chi Wu
Shawn H Tsai
Nan-Kai Wang
Affiliated Authors:
Winston Lee
Pei-Kang Liu
Sarah R Levi
Hung-Hsi Wang
Nelson Chen
Nan-Kai Wang
Columbia Affiliation:
Subjects:
Ciliopathies (MeSH)
Cone-Rod Dystrophies (MeSH)
Dwarfism (MeSH)
Retinal Dystrophies (MeSH)
Author Keywords:
ciliopathy
cfap410
c21orf2
retinal dystrophy
cone-rod dystrophy
short stature
whole exome sequencing
elink
Publication Type:
Article
Unique ID:
10.1080/13816810.2021.2010773
PMID:
34915818
DOI:
10.1080/13816810.2021.2010773
Journal:
Ophthalmic Genetics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created: