Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses
characterized by mucocutaneous fragility and blister formation, inducible by often minimal …

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 …

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 …

Written by two leaders in the field of pediatric dermatology, this classic text provides both
detailed content for the specialist and easily accessible information for the non …

Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility
and blistering on the skin and mucous membranes in response to minimal trauma …

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 …

Epidermolysis bullosa (EB) is the umbrella term for a group of rare inherited skin fragility
disorders caused by mutations in at least 20 different genes. There is no cure for any of the …

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

Kelch-like gene family members (KLHLs) encode proteins with a bric-a-brac, tramtrack,
broad complex (BTB)/poxvirus and zinc finger (POZ) domain, a BACK domain, and six Kelch …

The start codon c. 1A> G mutation in KLHL24, encoding ubiquitin ligase KLHL24, results in
the loss of 28 N-terminal amino acids (KLHL24-ΔN28) by skipping the initial start codon. In …