Human genes for junctional epidermolysis bullosa Herlitz type
Junctional epidermolysis bullosa Herlitz type [DOID:0060737]
A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa.
Synonyms: junctional epidermolysis bullosa Herlitz type, DOID:0060737, junctional epidermolysis bullosa Herlitz types, epidermolysis bullosa letalis, Herlitz-Pearson-type epidermolysis bullosa ...