DEGS1 variant causes neurological disorder
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-019-0444-z
Abstract: Sphingolipidoses are monogenic lipid storage diseases caused by variants in enzymes of lipid synthesis and metabolism. We describe an autosomal recessive complex neurological disorder affecting consanguineous kindred. All four affected individuals, born at term following… read more here.
Keywords: neurological disorder; causes neurological; disorder; affected individuals ... See more keywords
Frequency of Injuries to Women after Sexual Offense – Relevance of a Gynecology Examination
Sign Up to like & getrecommendations! Published in 2022 at "Geburtshilfe und Frauenheilkunde"
DOI: 10.1055/a-1769-6613
Abstract: Introduction Up to a third of women worldwide report having experienced an act of sexual violence during their lifetime. The emergency gynecology department is often the first port of call for affected individuals. The aim… read more here.
Keywords: women sexual; affected individuals; extragenital injuries; sexual offense ... See more keywords
Corneal ectasia associated with posterior lamellar opacification
Sign Up to like & getrecommendations! Published in 2021 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2021.1923034
Abstract: ABSTRACT Background Concomitant corneal ectasia and posterior lamellar corneal opacification is rare, and the genetic relationship between these two conditions is unclear. We report the genetic and clinical characterization of this phenotype in three unrelated… read more here.
Keywords: corneal; corneal ectasia; affected individuals; posterior lamellar ... See more keywords
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder
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DOI: 10.1093/hmg/ddab368
Abstract: Abstract In the framework of the UK 100 000 Genomes Project, we investigated the genetic origin of a previously undescribed recessive dermatological condition, which we named LIPHAK (LTV1-associated Inflammatory Poikiloderma with Hair abnormalities and Acral Keratoses),… read more here.
Keywords: gene; ribosome biogenesis; gene ltv1; affected individuals ... See more keywords
COVID-19-related Stigma Among the Affected Individuals: A Cross-Sectional Study From Kerala, India
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DOI: 10.1177/02537176221086983
Abstract: Background: The studies and case reports from various parts of the world are showing discrimination and stigma associated with COVID-19. Stigma can directly worsen the mental health of people and also worsen physical health indirectly.… read more here.
Keywords: stigma; affected individuals; cross sectional; covid ... See more keywords
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.806190
Abstract: Galloway-Mowat syndrome is a rare autosomal recessive disease characterized by a unique combination of renal and neurological manifestations, including early-onset steroid-resistant nephrotic syndrome, microcephaly, psychomotor delay, and gyral abnormalities of the brain. Most patients die… read more here.
Keywords: four affected; affected individuals; sialoglycoprotein endopeptidase; mowat syndrome ... See more keywords