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Epidermolysis bullosa "simplex," autosomal recessive
- ... EPIDERMOLYSIS BULLOSA SIMPLEX 1D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS1D EPIDERMOLYSIS BULLOSA SIMPLEX 2E, WITH MIGRATORY CIRCINATE ERYTHEMA; EBS2E PubMed Charlesworth ...
- ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, ... Epidermolysis bullosa simplex 5C, with pyloric atresia Genetic Testing Registry: Epidermolysis ...
- ... skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. J Invest Dermatol. 2010 Jun; ...