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Liječnički vjesnik, Vol. 144 No. Supp 2, 2022.

Meeting abstract

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

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Abstract

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.

Keywords

Cerebro-oculo-facio-skeletal syndrome, ERCC6, Whole Exome Sequencing

Hrčak ID:

278969

URI

https://hrcak.srce.hr/278969

Publication date:

27.4.2022.

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