Background Several new genes and clinical subtypes have been identified since the
publication in 2014 of the report of the last International Consensus Meeting on …

Epidermolysis bullosa (EB), a group of heritable skin fragility disorders, is characterized by
blistering, erosions and chronic ulcers in the skin and mucous membranes. In some forms …

Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - PMC Skip to main
content Here's how you know Official websites use .gov A .gov website belongs to an official …

Inherited epidermolysis bullosa (EB) is a group of heterogeneous genetic disorders
characterized by skin fragility. EB comprises a large spectrum of phenotypes, ranging from …

Epidermolysis bullosa, a group of heritable blistering disorders, shows extensive phenotypic
variability due to mutations in as many as 20 distinct genes. There is no cure for this …

Background Discovering the genetic basis of inherited skin diseases is fundamental to
improving diagnostic accuracy and genetic counselling. In the 1990s and 2000s, genetic …

Epidermolysis bullosa (EB) is a devastating genetic skin disease typified by a plethora of
different phenotypes and ranking from severe, early lethal, to mild localized forms. Although …

Heterozygous missense mutations in the human COL7A1 gene–coding for collagen VII–
lead to the rare, dominantly inherited skin disorder dominant dystrophic epidermolysis …

Epidermolysis bullosa (EB) is a group of rare genodermatoses that is characterized by skin
fragility resulting from minor trauma. There are four major subtypes, namely, EB simplex …

Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene. The disease
characterized by clinical heterogeneity. To date, scientific findings allow to evaluate …