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A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY
PURPOSE: RTN4IP1 biallelic mutations cause a recessive optic atrophy, sometimes associated to more severe neurological syndromes, but so far, no retinal phenotype has been reported in RTN4IP1 patients, justifying their reappraisal. METHODS: Seven patients from four families carrying biallelic RTN4IP...
שמור ב:
| הוצא לאור ב: | Retina |
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| Main Authors: | , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Retina
2021
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8297537/ https://ncbi.nlm.nih.gov/pubmed/33315831 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/IAE.0000000000003054 |
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