A novel c.980C>G variant in OAT results in identifiable gyrate atrophy phenotype associated with retinal detachment in a young female
| Autor: | Moustafa S. Magliyah, Abrar K Alsalamah, Sawsan R. Nowilaty, Majeedah AlOtaibi |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty genetic structures Ornithine aminotransferase 030105 genetics & heredity Nyctalopia 03 medical and health sciences 0302 clinical medicine Gyrate atrophy medicine Young female Genetics (clinical) Retina business.industry Retinal detachment medicine.disease Phenotype eye diseases Ophthalmology medicine.anatomical_structure Pediatrics Perinatology and Child Health 030221 ophthalmology & optometry sense organs Choroid medicine.symptom business |
| Zdroj: | Ophthalmic Genetics. 42:204-208 |
| ISSN: | 1744-5094 1381-6810 |
| DOI: | 10.1080/13816810.2020.1843185 |
| Popis: | Background: Gyrate atrophy of the choroid and retina (GA) is a rare autosomal recessive disorder characterized by nyctalopia, myopia, sharply demarcated expanding peripheral chorioretinal atrophic ... |
| Databáze: | OpenAIRE |
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