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A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families
Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed...
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| Publié dans: | Int J Mol Cell Med |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Babol University of Medical Sciences
2017
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5581554/ https://ncbi.nlm.nih.gov/pubmed/28890889 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.22088/acadpub.BUMS.6.2.7 |
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