ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Neurology"
DOI: 10.1007/s00415-018-9141-z
Abstract: Autosomal recessive cerebellar ataxia type 3 (ARCA3) is a rare inherited disorder caused by mutations in the ANO10 gene. The disease is characterized by slowly progressive spastic ataxia variably associated with motor neuron involvement, epilepsy,… read more here.
Keywords: phenotype; screening recessive; ataxia; mutational screening ... See more keywords
CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients
Sign Up to like & getrecommendations! Published in 2017 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2016.1188121
Abstract: Primary congenital glaucoma (PCG) is a rare and severe autosomal recessive disease, characterized by high intraocular pressure during the neonatal or early infantile period. If undetected and timel... read more here.
Keywords: congenital glaucoma; mutational screening; primary congenital; screening portuguese ... See more keywords
Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Immunology Research"
DOI: 10.1155/2022/5068523
Abstract: Background As a heterogeneous hereditary connective tissue disorder, osteogenesis imperfecta (OI) is clinically characterized by increased fracture susceptibility. Analysis of genetic pathogenic variants in patients with OI provides a basis for genetic counseling and prenatal… read more here.
Keywords: genes chinese; imperfecta; skeletal genes; screening skeletal ... See more keywords
Mutational Screening for Mitochondrial tRNA Mutations in 150 Children with High Myopia
Sign Up to like & getrecommendations! Published in 2021 at "Iranian Journal of Pediatrics"
DOI: 10.5812/ijp.115288
Abstract: Background: Myopia is a very common eye disease with an unknown etiology. Increasing evidence shows that mitochondrial dysfunction plays an active role in the pathogenesis and progression of this disease. Objectives: The purpose of this… read more here.
Keywords: screening mitochondrial; high myopia; 150 children; mitochondrial trna ... See more keywords