Ontology highlight
ABSTRACT:
SUBMITTER: Souzeau E
PROVIDER: S-EPMC6066270 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Souzeau Emmanuelle E Thompson Jennifer A JA McLaren Terri L TL De Roach John N JN Barnett Christopher P CP Lamey Tina M TM Craig Jamie E JE
Molecular vision 20180721
<h4>Purpose</h4>Inherited retinal dystrophies are a clinically and genetically heterogeneous group of disorders. Molecular diagnosis has proven utility for affected individuals. In this study, we report an individual enrolled in the Australian Inherited Retinal Disease Registry and DNA Bank diagnosed with clinical features overlapping between Leber congenital amaurosis and retinitis pigmentosa.<h4>Methods</h4>DNA from the proband was sequenced using a gene panel for inherited retinal disorders, ...[more]