Now showing items 1-3 of 3
Whole-exome sequencing revealed two novel mutations in Usher syndrome
(Elsevier Science Bv., 2015)
Usher syndrome is a clinically and genetically heterogeneous autosomal recessive inherited disorder accompanied by hearing loss and retinitis pigmentosa (RP). Since the associated genes are various and quite large, we ...
Genes that affect brain structure and function identified by rare variant analyses of mendelian neurologic disease
(Cell Press, 2015)
Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome ...
A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole‑exome sequencing
(Spandidos Publications, 09.04.2020)
Abstract. The condition 3-methylglutaconic aciduria (3-MGA) with deafness, encephalopathy and Leigh-like (MEGDEL) syndrome, also known as 3-MGA IV, is one of a group of five rare metabolic disorders characterized by ...