Sažetak sa skupa
https://doi.org/10.26800/LV-145-supl2-CR47
Innovative Genome Joint Analysis for identification of novel deep-intronic de novo pathogenic variants in KMT2A gene - WiedemannSteiner Syndrom
Matea Bagarić
; School of Medicine, University of Zagreb, Zagreb, Croatia
Nives Živković Živković
Mario Ćuk
Sažetak
Heterozygous mutations in KMT2A gene are known to cause Wiedemann-Steiner Syndrome (WDSTS), a rare, autosomal dominant disease characterized by facial dysmorphism, intellectual disability, hypertrichosis cubiti, and psychomotor developmental delay. Whole genome sequencing (WGS) is a promising method to both identify pathogenic gene variants and facilitate personalized medical management.
Ključne riječi
Hypertrichosis cubiti; KMT2A protein, human; Rare Disease; Whole Genome Sequencing
Hrčak ID:
303898
URI
Datum izdavanja:
23.4.2023.
Posjeta: 258 *