Search

Your search keyword '"Purcarin G"' showing total 1 results
Start Over Author "Purcarin G" Journal clinical case reports

Refine your results

1 results on '"Purcarin G"'

1. The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2 .

Author

Shakir A, Wadley AF, Purcarin G, and Wierenga KJ

Abstract

We report the second known family affected by deafness-dystonia syndrome associated with loss of function of FITM2 . Our patient is compound heterozygous for pathogenic FITM2 variants, while affected siblings in the first report were homozygous. This case provides evidence that this novel genetic disorder is associated with autosomal recessive inheritance.

Published
2018
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results