Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24253
Abstract: Infantile neuroaxonal dystrophy is an autosomal recessive neurological disorder. Individuals with infantile neuroaxonal dystrophy experience progressive loss of vision, mental skills and muscular control, and other variable clinical signs. Pathogenic variants in the PLA2G6 gene,… read more here.
Keywords: neuroaxonal dystrophy; pla2g6 gene; family infantile; infantile neuroaxonal ... See more keywords
CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Neuroscience"
DOI: 10.1080/00207454.2020.1763344
Abstract: Abstract Purpose SPG76 is one of the rare forms of hereditary spastic paraplegia (HSP) which causes by mutations in the CAPN1 gene. The mode of inheritance of SPG76 is autosomal recessive (AR) and so far,… read more here.
Keywords: iranian family; hereditary spastic; pure hsp; hsp ... See more keywords
Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report
Sign Up to like & getrecommendations! Published in 2020 at "BMC Medical Genetics"
DOI: 10.1186/s12881-020-01016-y
Abstract: Background Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive mitochondrial disorder which is caused by mutation in mitochondrial calcium uptake 1 ( MICU1) gene located on chromosome 10q22.1. Next Generation Sequencing (NGS) technology is… read more here.
Keywords: iranian family; extrapyramidal signs; family; myopathy extrapyramidal ... See more keywords
Detection of a rare AXIN2 variant in an Iranian family with hypodontia and oligodontia
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Dental Research, Dental Clinics, Dental Prospects"
DOI: 10.34172/joddd.2022.018
Abstract: Background. Hypodontia, or the absence of one or more teeth during tooth formation, is a highly prevalent dental anomaly. Nevertheless, the main causes are still unknown. Mutations in PAX9, MSX1, WNT10A, and AXIN2 genes are… read more here.
Keywords: family; variant; iranian family; hypodontia oligodontia ... See more keywords