Literature DB >> 33108933

SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family.

Asha Deepthi1, Omar Fakhoury2, Mohamad Daher3, Alicia Gambarini4, Stephany El-Hayek1, André Megarbane4,5,6.   

Abstract

Entities:  

Year:  2020        PMID： 33108933     DOI： 10.1080/13816810.2020.1836660

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


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  1 in total

1.  Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.

Authors:  Evangelia S Panagiotou; Narcis Fernandez-Fuentes; Layal Abi Farraj; Martin McKibbin; Nursel H Elçioglu; Hussain Jafri; Eren Cerman; David A Parry; Clare V Logan; Colin A Johnson; Chris F Inglehearn; Carmel Toomes; Manir Ali
Journal:  Mol Vis       Date:  2022-05-17       Impact factor: 2.711
  1 in total

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