1.
Clin Genet
; 92(1): 109-111, 2017 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27790702
RESUMO
We report a novel ARL2BP splice site mutation after whole-exome sequencing (WES) applied to a Moroccan family including two sisters affected with autosomal recessive rod-cone dystrophy (arRCD). Subsequent analysis of 844 index cases did not reveal further pathogenic chances in ARL2BP indicating that mutations in ARL2B are a rare cause of arRCD (about 0.1%) in a large cohort of French patients.