New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy
R Riveiro-Álvarez, YA Xie… - JAMA …, 2015 - jamanetwork.com
Importance The families evaluated in this study represent the second report of cone-rod
dystrophy (CRD) cases caused by mutations inRAB28, a recently discovered gene
associated with CRD. Objective To determine the disease-causing gene in 2 families of
Spanish descent presenting with CRD who do not haveABCA4mutations. Design, Setting,
and Participants Molecular genetics and observational case studies of 2 families, each with
1 affected proband with CRD and 3 or 5 unaffected family members. The affected individual …
dystrophy (CRD) cases caused by mutations inRAB28, a recently discovered gene
associated with CRD. Objective To determine the disease-causing gene in 2 families of
Spanish descent presenting with CRD who do not haveABCA4mutations. Design, Setting,
and Participants Molecular genetics and observational case studies of 2 families, each with
1 affected proband with CRD and 3 or 5 unaffected family members. The affected individual …
