Now showing items 1-6 of 6
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 ...
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis
(Oxford Univ Press, 2015)
POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and is associated with short stature, onychodysplasia, facial dysmorphismand hypotrichosis (SOFT) syndrome. These main features are related to ...
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
(BioMed Central Ltd, 2015)
Background: 3MC1 syndrome is a rare autosomal recessive disorder characterized by intellectual disability, short stature and distinct craniofacial, umbilical, and sacral anomalies. Five mutations in MASP1, encoding lectin ...
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 ...
Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review
Poikiloderma with neutropenia (PN), is a rare genodermatosis associated with patognomic features of poikiloderma and permanent neutropenia. Three common recurrent mutations of related gene, USB1, were considered to be ...
Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome
(Elsevier Science Bv., 2016)
Most cases of CHARGE syndrome are sporadic and autosomal dominant. CHD7 is a major causative gene of CHARGE syndrome. In this study, we screened CHD7 in two Turkish patients demonstrating symptoms of CHARGE syndrome such ...