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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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Detaylı Bibliyografya
Yayımlandı:Int J Mol Cell Med
Asıl Yazarlar: Dehghani, Mohammadreza, Dehghan Tezerjani, Masoud, Metanat, Zahra, Vahidi Mehrjardi, Mohammad Yahya
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Babol University of Medical Sciences 2017
Konular:
Online Erişim: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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