Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis

Chetan Khantibai Patel,Suzanne Broadgate,Ahmed Shalaby,Jing Yu,Andrea H. Nemeth,Susan M. Downes,Stephanie Halford

OPHTHALMIC GENETICS（2022）

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Knobloch syndrome,paediatric retinal detachment,paediatric vitreous opacities

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