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GENATLAS PHENOTYPE

last update : 04/10/2008

Symbol	EBS2A
Location	12q13.2-q13.3
Name	epidermolysis bullosa simplex, generalized other
Other name(s)	EBS Koebner type
Corresponding gene	KRT5
Main clinical features	onset during the first 3 months of life, characterized by generalized bullae in herpetiform arrangement serous and hemorrhagic blisters occur on any part of the body, but most frequently on the palms and soles, around the mouth, and on the trunk and neck electron microscopy shows basal cell vacuolization and dissolution of tonofibrils
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Gene product

Name	keratin 5,type II (KRT5)

Remark(s)