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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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| Publicado no: | Int J Mol Cell Med |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Babol University of Medical Sciences
2017
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| Assuntos: | |
| Acesso em linha: | 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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