Article
PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.
Scientific reports - 18 Dec 2019
Khaled Mariam Lofty, Bykhovskaya Yelena, Gu Chunfang, Liu Alice, Drewry Michelle D, Chen Zhong, Mysona Barbara A, Parker Emily, McNabb Ryan P, Yu Hongfang, Lu Xiaowen, Wang Jing, Li Xiaohui, Al-Muammar Abdulrahman, Rotter Jerome I, Porter Louise F, Estes Amy, Watsky Mitchell A, Smith Sylvia B, Xu Hongyan, Abu-Amero Khaled K, Kuo Anthony, Shears Stephen B, Rabinowitz Yaron S, Liu Yutao
Abstract excerpt
Keratoconus (KC) is the most common corneal ectatic disorder affecting >300,000 people in the US. KC normally has its onset in adolescence, progressively worsening through the third to fourth decades of life. KC patients report significant impaired vision-related quality of life. Genetic factors play an important role in KC pathogenesis. To identify novel genes in familial KC patients, we performed whole exome...
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