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

Xu M., Xie YA., Abouzeid H., Gordon CT., Fiorentino A., Sun Z., Lehman A., Osman IS., Dharmat R., Riveiro-Alvarez R., Bapst-Wicht L., Babino D., Arno G., Busetto V., Zhao L., Li H., Lopez-Martinez MA., Azevedo LF., Hubert L., Pontikos N., Eblimit A., Lorda-Sanchez I., Kheir V., Plagnol V., Oufadem M., Soens ZT., Yang L., Bole-Feysot C., Pfundt R., Allaman-Pillet N., Nitschké P., Cheetham ME., Lyonnet S., Agrawal SA., Li H., Pinton G., Michaelides M., Besmond C., Li Y., Yuan Z., von Lintig J., Webster AR., Le Hir H., Stoilov P., Amiel J., Hardcastle AJ., Ayuso C., Sui R., Chen R., Allikmets R., Schorderet DF., Black G., Hall G., Gillespie R., Ramsden S., Manson F., Sergouniotis P., Inglehearn C., Toomes C., Ali M., McKibbin M., Poulter J., Lord E., Nemeth A., Halford S., Downes S., Yu J.

DOI

10.1016/j.ajhg.2017.02.008

Type

Journal article

Journal

The American Journal of Human Genetics

Publisher

Elsevier BV

Publication Date

04/2017

Volume

100

Pages

592 - 604

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