TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis

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...

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Detalles Bibliográficos
Autores principales: Bykhovskaya, Yelena, Fardaei, Majid, Khaled, Mariam Lotfy, Nejabat, Mahmood, Salouti, Ramin, Dastsooz, Hassan, Liu, Yutao, Inaloo, Soroor, Rabinowitz, Yaron S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2017
Materias:
Cornea
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760196/
https://www.ncbi.nlm.nih.gov/pubmed/29261847
http://dx.doi.org/10.1167/iovs.17-22819

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