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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...
Autores principales: | Wang, Yihui, Teng, Yanling, Liang, Desheng, Li, Zhuo, Wu, Lingqian |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
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 |
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