Sažetak sa skupa
https://doi.org/10.26800/LV-144-supl2-CR41
New Variant of Unknown Significance found in ERCC6 gene -Cerebro-oculo-facio-skeletal syndrome
Nika Pušeljić
; Faculty of Medicine, University of Osijek
Ivana Jurić
; Faculty of Medicine, University of Osijek
Matea Smajić
; aculty of Medicine, University of Osijek
Silvija Pušeljić
; Division of Neurology, Genetic, Metabolic disease and Endocrinology, Department of Pediatrics, University Hospital Center
Sažetak
INTRODUCTION/OBJECTIVES: Cerebro-oculo-facio-skel- etal syndrome (COFS) is a genetic disorder caused by a mutation of the DNA repair genes presenting with severe sensorineural involvement. The aim was to present a possible new pathogen mutation in the ERCC6 gene responsible for the clinical presentation of COFS.
Ključne riječi
Cerebro-oculo-facio-skeletal syndrome, ERCC6, Whole Exome Sequencing
Hrčak ID:
278969
URI
Datum izdavanja:
27.4.2022.
Posjeta: 650 *