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Motor involvement in frontotemporal lobar degeneration with TAR DNA-binding protein of 43 kDa type C.
Neuropathology
January 2025
Department of Neurology, Osaka University Graduate School of Medicine, Osaka, Japan.
The degeneration of pyramidal tracts has been reported in frontotemporal lobar degeneration with TDP-43 (TAR DNA-binding protein 43) pathology (FTLD-TDP) type C. Herein, we examined the detailed pathology of the primary motor area and pyramidal tracts in the central nervous system in four autopsy cases of FTLD-TDP type C, all of which were diagnosed by neuropathological, biochemical, and genomic analyses. Three patients showed right dominant atrophy of the frontal and temporal lobes, while the other patient showed left dominant atrophy.
View Article and Find Full Text PDFBart syndrome with musculoskeletal deformity: a rare case report.
Ann Med Surg (Lond)
December 2024
Nepal Medical College and Teaching Hospital, Kathmandu, Nepal.
Introduction: Bart syndrome is a rare genetic disorder characterized by epidermolysis bullosa (EB), aplasia cutis congenita, that is congenital local absence of skin and nail abnormalities.
Case Presentation: The authors herein, present a case of a 14-year-old boy with Bart syndrome. The syndrome was diagnosed clinically.
A homozygous nonsense mutation identified in in a family with autosomal recessive dystrophic epidermolysis bullosa.
J Med Life
September 2024
Center for Genetics and Inherited Diseases, Taibah University Almadinah, Medina, Kingdom of Saudi Arabia.
Article Synopsis
- Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited skin disorder caused by mutations in a specific gene, presenting with symptoms like skin erosions and atrophic scars.
- A study of a four-generation consanguineous family identified a harmful genetic mutation, c.409C>T (p.Arg137*), in two patients with RDEB through whole exome sequencing (WES).
- The findings highlight the importance of WES in diagnosing complex genetic diseases and contribute to understanding the mutation spectrum of the gene in different populations.
Autosomal recessive type of dystrophic epidermolysis bullosa with a novel variant in the COL7A1 gene.
Biomed Rep
November 2024
Department of Dermatology, Venereology and Allergology, Medical University-Pleven, 'Dr Georgi Stranski' University Hospital, 5800 Pleven, Bulgaria.
Epidermolysis bullosa (EB) is an inherited skin condition whose hallmark is skin fragility caused by minimal trauma or friction. The dystrophic type of EB (DEB), accounting for 30% of all cases, is caused by mutations in the gene encoding type VII collagen α1 chain (). It is inherited in an autosomal-dominant or autosomal-recessive manner.
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