Publications:

Lens Biometry in Congenital Lens Deformities: A Swept-Source Anterior Segment OCT Analysis.

Frontiers In Medicine

Chen, Ze-Xu ZX; Jia, Wan-Nan WN; Jiang, Yong-Xiang YX

Publication Date: 2021

Variant appearance in text: FBN1: 3244G>T

PubMed Link: 34988093

Variant Present in the following documents:

• Main text

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Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations.

Frontiers In Molecular Biosciences

Chen, Songchang S; Fei, Hongjun H; Zhang, Junyun J; Chen, Yiyao Y; Huang, Hefeng H; Lu, Daru D; Xu, Chenming C

Publication Date: 2021

Variant appearance in text: FBN1: 3244G>T; Gly1082Cys

PubMed Link: 34957211

Variant Present in the following documents:

• Main text
• fmolb-08-749842.pdf

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Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.

The British Journal Of Ophthalmology

Chen, Zexu Z; Chen, Tianhui T; Zhang, Min M; Chen, Jiahui J; Deng, Michael M; Zheng, Jialei J; Lan, Li-Na LN; Jiang, Yongxiang Y

Publication Date: 2022-12

Variant appearance in text: FBN1: 3244G>T; Gly1082Cys

PubMed Link: 34281902

Variant Present in the following documents:

• Main text
• bjophthalmol-2021-319084.pdf
• bjophthalmol-2021-319084supp004.pdf
• bjophthalmol-2021-319084supp003.pdf

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