[HTML][HTML] Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity

MC Pânzaru, L Caba, L Florea, EE Braha, EV Gorduza - Diagnostics, 2022 - mdpi.com
Epidermolysis bullosa is a heterogeneous group of rare genetic disorders characterized by
mucocutaneous fragility and blister formation after minor friction or trauma. There are four …

[HTML][HTML] Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group

C Sánchez-Jimeno, MJ Escámez, C Ayuso… - Actas Dermo …, 2018 - Elsevier
Epidermolysis bullosa (EB) is a rare genetic disease that causes mucocutaneous fragility. It
comprises a clinically and genetically heterogeneous group of disorder characterized by …

[HTML][HTML] Inherited epidermolysis bullosa: update on the clinical and genetic aspects,

LM Mariath, JT Santin, L Schuler-Faccini… - Anais brasileiros de …, 2020 - SciELO Brasil
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 …

Molecular genetic assays for inherited epidermolysis bullosa

C Has - Clinics in dermatology, 2011 - Elsevier
Epidermolysis bullosa (EB) is a heterogeneous group of genetic disorders, characterized by
blistering of skin and mucosal membranes under normal mechanical stress conditions. The …

Epidermolysis bullosa

A Bardhan, L Bruckner-Tuderman… - Nature reviews Disease …, 2020 - nature.com
Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses
characterized by mucocutaneous fragility and blister formation, inducible by often minimal …

1.2 Classification and molecular basis of hereditary epidermolysis bullosa

CM Lanschuetzer, JD Fine - Life with Epidermolysis Bullosa (EB): Etiology …, 2009 - Springer
Epidermolysis bullosa (EB) encompasses a number of diseases all having blistering and
mechanical fragility as common features. Each type and subtype is classified based on …

Epidermolysis bullosa: new and emerging trends

S Pai, MP Marinkovich - American journal of clinical dermatology, 2002 - Springer
Epidermolysis bullosa is a family of inherited blistering skin disorders characterized by
blister formation in response to mechanical trauma. Major types of epidermolysis bullosa …

[HTML][HTML] Inherited epidermolysis bullosa: A multisystem disease of skin and mucosae fragility

G Maldonado-Colin… - Indian Journal of …, 2017 - journals.lww.com
Epidermolysis bullosa (EB) is a blistering disorder that can be autosomic or dominantly
inherited and has a wide spectrum of clinical presentations. The most recent classification …

Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants

R Varki, S Sadowski, E Pfendner, J Uitto - Journal of medical genetics, 2006 - jmg.bmj.com
Introduction: Epidermolysis bullosa (EB), a group of autosomal heritable blistering diseases,
is characterised by extensive phenotypic variability with considerable morbidity and …

[HTML][HTML] Inherited epidermolysis bullosa

JD Fine - Orphanet journal of rare diseases, 2010 - Springer
Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by
recurrent blister formation as the result of structural fragility within the skin and selected other …