Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy
Purpose: To report on the presence of autosomal dominant and compound dominant-null RP1-related retinitis pigmentosa in the same non-consanguineous family. Observation: The father was minimally symptomatic and referred by his optometrist aged 38. He was diagnosed with rod-cone dystrophy, confirmed t...
-д хадгалсан:
| Үндсэн зохиолчид: | , , , , |
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| Формат: | Artigo |
| Хэл сонгох: | Inglês |
| Хэвлэсэн: |
Elsevier
2022-12-01
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| Цуврал: | American Journal of Ophthalmology Case Reports |
| Нөхцлүүд: | |
| Онлайн хандалт: | http://www.sciencedirect.com/science/article/pii/S2451993622004443 |
| Шошгууд: |
Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!
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