Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia
新的SIX6基因突变会导致隐性遗传的先天性白内障、小角膜和角膜混浊,伴或不伴有眼裂缺损和小眼球。
期刊:Mol Vis
影响因子:1.800
doi:2022 May 17:28:57-69.
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