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
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
A novel homozygous deletion in EXPH5 causes a skin fragility phenotype.
Malchin N et al.
Clinical and Experimental Dermatology, 2016
Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex.
Rashidghamat E et al.
The British Journal of Dermatology, 2016
Recently Identified Forms of Epidermolysis Bullosa.
McGrath JA
Annals of Dermatology, 2015
Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.
Pigors M et al.
The Journal of Investigative Dermatology, 2014
Mutations in EXPH5 result in autosomal recessive inherited skin fragility.
Liu L et al.
The British Journal of Dermatology, 2014
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