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A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family

PURPOSE: Peters anomaly (PA) is a heterogeneous developmental disorder characterized by central corneal opacity and iridocorneal or corneolenticular adhesions. Although many causative genes have been identified, most screened patients do not have mutations in the known genes. We aimed to identify th...

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Vydáno v:Mol Vis
Hlavní autoři: Darbari, Ensieh, Zare-Abdollahi, Davood, Alavi, Afagh, Rezaei Kanavi, Mozhgan, Feizi, Sepehr, Hosseini, Seyed Bagher, Baradaran-Rafii, Alireza, Ahmadieh, Hamid, Issazadeh-Navikas, Shohreh, Elahi, Elahe
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7700884/
https://ncbi.nlm.nih.gov/pubmed/33273802
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