Compound Heterozygous Variants of the CPAMD8 Gene Co-Segregating in Two Chinese Pedigrees With Pigment Dispersion Syndrome/Pigmentary Glaucoma

Compound Heterozygous Variants of the CPAMD8 Gene Co-Segregating in Two Chinese Pedigrees With Pigment Dispersion Syndrome/Pigmentary Glaucoma

The molecular mechanisms underlying the pathogenesis of pigment dispersion syndrome and pigmentary glaucoma remain unclear. In pedigree-based studies, familial aggregation and recurrences in relatives suggest a strong genetic basis for pigmentary glaucoma. In this study, we aimed to identify the gen...

Full description

Bibliographic Details
Main Authors: Junkai Tan, Liuzhi Zeng, Yun Wang, Guo Liu, Longxiang Huang, Defu Chen, Xizhen Wang, Ning Fan, Yu He, Xuyang Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Genetics
Subjects:
CPAMD8
pigmentary glaucoma
autosomal recessive inheritance
pedigree
compound heterozygous variant
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.845081/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.845081/full

Similar Items