Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Author:

Xu Mingchu,Xie Yajing (Angela),Abouzeid Hana,Gordon Christopher T.,Fiorentino Alessia,Sun Zixi,Lehman Anna,Osman Ihab S.,Dharmat Rachayata,Riveiro-Alvarez Rosa,Bapst-Wicht Linda,Babino Darwin,Arno Gavin,Busetto Virginia,Zhao Li,Li Hui,Lopez-Martinez Miguel A.,Azevedo Liliana F.,Hubert Laurence,Pontikos Nikolas,Eblimit Aiden,Lorda-Sanchez Isabel,Kheir Valeria,Plagnol Vincent,Oufadem Myriam,Soens Zachry T.,Yang Lizhu,Bole-Feysot Christine,Pfundt Rolph,Allaman-Pillet Nathalie,Nitschké Patrick,Cheetham Michael E.,Lyonnet Stanislas,Agrawal Smriti A.,Li Huajin,Pinton Gaëtan,Michaelides Michel,Besmond Claude,Li Yumei,Yuan Zhisheng,von Lintig Johannes,Webster Andrew R.,Le Hir Hervé,Stoilov Peter,Amiel Jeanne,Hardcastle Alison J.,Ayuso Carmen,Sui Ruifang,Chen Rui,Allikmets Rando,Schorderet Daniel F.,Black Graeme,Hall Georgina,Gillespie Rachel,Ramsden Simon,Manson Forbes,Sergouniotis Panagiotis,Inglehearn Chris,Toomes Carmel,Ali Manir,McKibbin Martin,Poulter James,Lord Emma,Nemeth Andrea,Halford Stephanie,Downes Susan,Yu Jing

Funder

RP Fighting Blindness

Fight for Sight

Moorfields Eye Charity

Moorfields Special Trustees

Foundation Fighting Blindness

National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital

National Health Service Foundation Trust

UCL Institute of Ophthalmology

National Eye Institute

Retinal Research Foundation

NIH

Agence Nationale de la Recherche

Research to Prevent Blindness

Ministry of Science and Technology of the People's Republic of China

National Natural Science Foundation of China

Beijing Natural Science Foundation

Spanish ISCIII

ONCE

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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