Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410 , associated with selective cone degeneration

Author:

Borchert Grace A.12,Shanks Morag E.23,Whitfield Jennifer23,Clouston Penny23,Raji Shabnam12,Sperring Sian2,Thompson Jennifer A.4,Xue Kanmin12,De Silva Samantha R.12,Downes Susan M.12,MacLaren Robert E.12,Cehajic-Kapetanovic Jasmina12

Affiliation:

1. Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK

2. Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

3. Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

4. Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Washington, Australia

Funder

University of Oxford Clarendon-Keble de Breyne

Ramsay scholarship to GAB

MRC UKRI to JCK

NIHR Oxford BRC to JCK and REM

Welcome Trust to KX; NIHR CRN to SRDS and SMD

Publisher

Informa UK Limited

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