Article
TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis.
Investigative ophthalmology & visual science - 1 Dec 2017
Bykhovskaya Yelena, Fardaei Majid, Khaled Mariam Lotfy, Nejabat Mahmood, Salouti Ramin, Dastsooz Hassan, Liu Yutao, Inaloo Soroor, Rabinowitz Yaron S
Abstract excerpt
Purpose: To test candidate genes TSC1 and TSC2 in a family affected by tuberous sclerosis complex (TSC) where proband was also diagnosed with bilateral keratoconus (KC) and to test the hypothesis that defects in the same gene may lead to a nonsyndromic KC. Methods: Next-generation sequencing of TSC1 and TSC2 genes was performed in a proband affected by TSC and KC. Identified mutation was confirmed by Sanger DNA...
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