Condition: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2


rs201045495 in DST gene and EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 PMID 20164846 2010 A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

PMID 25059916 2015 Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.