Associated Papers
Recessive epidermolysis bullosa simplex due to EXPH5 variants: case series of a rare subtype with multiple faces.
Grutters LA et al.
The British Journal of Dermatology, 2025
Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.
Youssefian L et al.
Clinical Chemistry, 2021
Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review.
Diociaiuti A et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders.
Saeidian AH et al.
The Journal of Investigative Dermatology, 2020
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
Vahidnezhad H et al.
Human Mutation, 2018
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