Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa

Retinitis pigmentosa (RP) is characterized by tremendous genetic and phenotypic heterogeneity. Here, we investigate the pathogeny of RP in a family to provide evidence for genetic and reproductive counseling for families. Although this pregnant woman of 8(+3) weeks presented with RP, her first baby...

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Detalles Bibliográficos
Autores principales: Wang, Yihui, Teng, Yanling, Liang, Desheng, Li, Zhuo, Wu, Lingqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8458757/
https://www.ncbi.nlm.nih.gov/pubmed/34567070
http://dx.doi.org/10.3389/fgene.2021.715100

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8458757/
https://www.ncbi.nlm.nih.gov/pubmed/34567070
http://dx.doi.org/10.3389/fgene.2021.715100

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