Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases.
Mellerio, J E
Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases. [electronic resource] - The British journal of dermatology Dec 1997 - 898-906 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0007-0963
Child, Preschool
Consanguinity
Epidermolysis Bullosa Simplex--genetics
Female
Fluorescent Antibody Technique
Genes, Recessive
Humans
Intermediate Filament Proteins--genetics
Mutation
Pedigree
Plectin
Respiration Disorders--genetics
Skin--ultrastructure
Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases. [electronic resource] - The British journal of dermatology Dec 1997 - 898-906 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0007-0963
Child, Preschool
Consanguinity
Epidermolysis Bullosa Simplex--genetics
Female
Fluorescent Antibody Technique
Genes, Recessive
Humans
Intermediate Filament Proteins--genetics
Mutation
Pedigree
Plectin
Respiration Disorders--genetics
Skin--ultrastructure