Аutosomal Dominant Oculodental-Digital Dysplasia with Mutation in Gene GJA1 (Clinical Case)
The purpose: to describe clinical cases of oculodental-digital dysplasia (ODDD, OMIM #164200) with mutation in GJA1 (OMIM 121014) with molecular genetic verification of the diagnosis.Methods. The article describes the clinical case of oculodental-digital dysplasia in a 51 years old patient. Patient...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Ophthalmology Publishing Group
2021-04-01
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| Series: | Oftalʹmologiâ |
| Subjects: | |
| Online Access: | https://www.ophthalmojournal.com/opht/article/view/1450 |
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