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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Detalles Bibliográficos
Autores principales: Dehghani, Mohammadreza, Dehghan Tezerjani, Masoud, Metanat, Zahra, Vahidi Mehrjardi, Mohammad Yahya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Babol University of Medical Sciences 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5581554/
https://www.ncbi.nlm.nih.gov/pubmed/28890889
http://dx.doi.org/10.22088/acadpub.BUMS.6.2.7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5581554/
https://www.ncbi.nlm.nih.gov/pubmed/28890889
http://dx.doi.org/10.22088/acadpub.BUMS.6.2.7

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