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Last Updated: 10/31/2025
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Found 731 publications
Development and Validation of a Scale to Assess Epidermolysis Bullosa Simplex Severity.
Journal: JAMA dermatology
Published: October 15, 2025
The p.Asn176Ser Variant of KRT5 at the Heptad "e" Position of the Helix Initiation Motif Causes Severe Epidermolysis Bullosa Simplex.
Journal: The Journal of dermatology
Published: July 24, 2025
Cleft Lip and Palate Repairs in a Patient With Epidermolysis Bullosa Simplex.
Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: June 25, 2025
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy.
Journal: Journal of neuromuscular diseases
Published: June 18, 2025
Recessive epidermolysis bullosa simplex due to EXPH5 variants- case series on a rare subtype with multiple faces.
Journal: The British journal of dermatology
Published: April 30, 2025
Missense and Inframe Pathogenic Variants in PLEC Lead to Minimal or Delayed-Onset Muscular Dystrophy in Autosomal Recessive Epidermolysis Bullosa Simplex: A Genotype-Phenotype Correlation in Nine Cases.
Journal: The Journal of dermatology
Published: April 25, 2025
Consequences of plectin ablation on the various intermediate filament systems in skeletal muscle.
Journal: European journal of cell biology
Published: March 07, 2025
Novel Clinical Observations Indicative of Epidermolysis Bullosa Simplex Associated With KLHL24.
Journal: Pediatric dermatology
Published: February 27, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Journal: Brain : a journal of neurology
Published: February 21, 2025
A "second hit" impacts disease severity in a dominantly inherited genetic skin disorder.
Journal: The Journal of experimental medicine
Published: February 20, 2025
A neonatal case of epidermolysis bullosa complicated by bronchomalacia.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: February 12, 2025
Preclinical validation of PKC412 as a therapy candidate for epidermolysis bullosa simplex across multiple keratin pathogenic variants.
Journal: The British journal of dermatology
Published: February 09, 2025
Last Updated: 10/31/2025