Article
Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.
Ophthalmic genetics - 1 Apr 2022
Patel Chetan Khantibai, Broadgate Suzanne, Shalaby Ahmed, Yu Jing, Nemeth Andrea H, Downes Susan M, Halford Stephanie
Abstract excerpt
BACKGROUND: To establish the molecular diagnosis in two brothers presenting with the ocular features of Knobloch Syndrome using whole genome sequencing (WGS). METHODS: Clinical examination and ophthalmological phenotyping were completed under general anaesthesia. DNA samples were tested on a targeted retinal dystrophy next-generation sequencing panel. Subsequently, WGS was performed to identify additional...
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