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GENATLAS PHENOTYPE

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)

Remark(s)

Genotype/Phenotype correlations

heterozygous carriers of the G2251E allele had normal skin but isolated toenail dystrophy (607523).