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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...

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Detalles Bibliográficos
Autores principales: Tan, Junkai, Zeng, Liuzhi, Wang, Yun, Liu, Guo, Huang, Longxiang, Chen, Defu, Wang, Xizhen, Fan, Ning, He, Yu, Liu, Xuyang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9358689/
https://www.ncbi.nlm.nih.gov/pubmed/35957697
http://dx.doi.org/10.3389/fgene.2022.845081

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