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Relative anterior microphthalmos in oculodentodigital dysplasia
Here, we report a patient with oculodentodigital dysplasia (ODDD) caused by the c. 413G>A, p.Gly138Asp mutation in the gap junction protein alpha-1 gene. The patient suffered from characteristic dysmorphic features of ODDD. Ophthalmological investigation disclosed microcornea and a shallow anteri...
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| Publicado no: | Indian J Ophthalmol |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Medknow Publications & Media Pvt Ltd
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5819136/ https://ncbi.nlm.nih.gov/pubmed/29380799 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/ijo.IJO_756_17 |
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