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[An ADTKD pedigree discovered from Fabry disease screening].
Zhonghua Nei Ke Za Zhi
February 2025
Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing210008, China.
Depicting Soybean Diversity via Complementary Application of Three Marker Types.
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Maize Research Institute Zemun Polje, Slobodana Bajića 1, 11185 Belgrade, Serbia.
Driven by the growing demands for plant-based protein in Europe and attempts of soybean breeding programs to improve the productivity of created varieties, this study aimed to enhance genetic resource utilization efficiency by providing information relevant to well-focused breeding targets. A set of 90 accessions was subjected to a comprehensive assessment of genetic diversity in a soybean working collection using three marker types: morphological descriptors, agronomic traits, and SSRs. Genotype grouping patterns varied among the markers, displaying the best congruence with pedigree data and maturity for SSRs and agronomic traits, respectively.
View Article and Find Full Text PDFA Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report.
Int J Mol Sci
January 2025
Department of Neurology, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo António, 4099-001 Porto, Portugal.
Chromosomal aberrations are rare but known causes of movement disorders, presenting with broad phenotypes in which dystonia may be predominant. During the investigation of such cases, chromosomal studies are not often considered as a first approach. In this article, the authors describe a family affected by a generalized form of dystonia, evolving from a focal phenotype, for which a new X chromosome large duplication was found to be the likely causative, therefore highlighting the role of such studies when facing complex movement disorders.
View Article and Find Full Text PDFThe Identification of a Novel Pathogenic Variant of the Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study.
Int J Mol Sci
January 2025
Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy.
Anderson-Fabry (or Fabry) disease is a rare lysosomal storage disorder caused by a functional deficiency of the enzyme alpha-galactosidase A. The partial or total defect of this lysosomal enzyme, which is caused by variants in the gene, leads to the accumulation of glycosphingolipids, mainly globotriaosylceramide in the lysosomes of different cell types. The clinical presentation of Fabry disease is multisystemic and can vary depending on the specific genetic variants associated with the disease.
View Article and Find Full Text PDFGenotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.
Genes (Basel)
January 2025
Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil.
Background: Nance-Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature.
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