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References OMIM Gene GeneReviews HGMD HGNC
last update : 26/06/2006
Symbol EBDDN
Location 3p21.31
Name epidermolysis bullosa dystrophica, neonatal form
Other name(s) bullous dermolysis of the newborn
Corresponding gene COL7A1
Other symbol(s) TBDN
Main clinical features not always trasient; rare patients continue to blister beyond the newborn period of infancy
Genetic determination autosomal dominant
Related entries including toenail dystrophy, isolated (OMIM 607523)
Function/system disorder dermatology
Type disease
Gene product
Name collagen type VII, alpha 1 (COL7A1)
Genotype/Phenotype correlations heterozygous carriers of the G2251E allele had normal skin but isolated toenail dystrophy (607523).