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Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant
BACKGROUND: The aim of the study was to identify the molecular genetic cause of two different Mendelian traits with ocular involvement present in the members of a single consanguineous Czech Roma family. METHODS: We have performed ocular examination and review of medical records in two individuals d...
Tallennettuna:
| Julkaisussa: | J Ophthalmol |
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| Päätekijät: | , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Hindawi
2020
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7212339/ https://ncbi.nlm.nih.gov/pubmed/32454992 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/6807809 |
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