research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
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5 / 1000+ resultsresearch Post SARS-CoV-2 vaccination effluvium
This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
research Epidermolysis Bullosa Simplex Keratinocytes Show Disturbed Mitochondrial Positioning and Activity
This study found that epidermolysis bullosa simplex keratinocytes had impaired mitochondrial activity and more dispersed mitochondrial distribution compared to normal human keratinocytes.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
This case study reports a new LAMB3 mutation linked to junctional epidermolysis bullosa with severe urinary tract stenosis, outlining treatment challenges and expanding knowledge of EB-related urological complications.
research The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.
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