טוען...
Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies
Retinal dystrophies (RD) are a group of Mendelian disorders caused by rare genetic variations leading to blindness. A pathogenic variant may manifest in both dominant or recessive mode and clinical and genetic heterogeneity makes it difficult to establish a precise diagnosis. In this study, families...
שמור ב:
| הוצא לאור ב: | Front Cell Dev Biol |
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| Main Authors: | , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Frontiers Media S.A.
2021
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7902019/ https://ncbi.nlm.nih.gov/pubmed/33634125 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fcell.2021.625560 |
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