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

https://hrcak.srce.hr/278969

Datum izdavanja:

27.4.2022.

Posjeta: 444 *