Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family

Macular coloboma (MC) is a rare congenital retinochoroidal defect characterized by lesions of different sizes in the macular region. The pathological mechanism underlying congenital MC is unknown. Novel compound heterozygous variations, c.4301delA (p.Asp1434fs*3) and c.5255C>G (p.Ser1752Ter), in...

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Detalles Bibliográficos
Autores principales: Zhang, Shuang, Zhang, Fangxia, Wang, Juan, Yang, Shangying, Ren, Yinghua, Rui, Xue, Xia, Xiaobo, Sheng, Xunlun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9688216/
https://www.ncbi.nlm.nih.gov/pubmed/36429029
http://dx.doi.org/10.3390/cells11223602

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9688216/
https://www.ncbi.nlm.nih.gov/pubmed/36429029
http://dx.doi.org/10.3390/cells11223602

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