Article
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.
Investigative ophthalmology & visual science - 1 May 2016
Vincent Ajoy, Ng Judith, Gerth-Kahlert Christina, Tavares Erika, Maynes Jason T, Wright Thomas, Tiwari Amit, Tumber Anupreet, Li Shuning, Hanson James V M, Bahr Angela, MacDonald Heather, Bähr Luzy, Westall Carol, Berger Wolfgang, Cremers Frans P M, den Hollander Anneke I, Héon Elise
Abstract excerpt
PURPOSE: To identify the genetic cause of autosomal recessive familial foveal retinoschisis (FFR). METHODS: A female sibship with FFR was identified (Family-A; 17 and 16 years, respectively); panel based genetic sequencing (132 genes) and comparative genome hybridization (142 genes) were performed. Whole-exome sequencing (WES) was performed on both siblings using the Illumina-HiSeq-2500 platform. A sporadic male...
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