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EXPH5 gene

Known as: SLAC2B, synaptotagmin-like homologue lacking C2 domains b, EXPH5 
National Institutes of Health

Papers overview

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Review
2020
Review
2020
Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review
Inherited epidermolysis bullosa is a skin fragility disorder typified by blister formation following minor trauma. Four major EB… 
2017
2017
Fragilité cutanée et cicatrices réticulées, penser à l’épidermolyse bulleuse simple liée au gène KLHL24
2016
2016
A novel homozygous deletion in EXPH5 causes a skin fragility phenotype
Epidermolysis bullosa simplex (EBS) is the most common form of EB. Eight different genes have been implicated in the pathogenesis… 
2016
2016
Table 3. [Molecular Basis of EBS Types Caused by EXPH5, KRT5, KRT14, and TGM5 Pathogenic Variants].
2014
2014
Mutations in EXPH5 result in autosomal recessive inherited skin fragility
Several different genes have been implicated in the pathophysiology of inherited blistering skin diseases. Recently, autosomal… 
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