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GENATLAS PHENOTYPE

last update : 19-05-2010

Symbol	EBS1
Location	8q24.3
HGNC id	3138
Name	epidermolysis bullosa simplex, Ogna type
Corresponding gene	PLEC
Other symbol(s)	EBSO
Main clinical features	in Norwegian family ultrastructural characteristics of EBS Ogna skin showed that blisters do not start via cytolysis of subnuclear central portions of the basal cell cytoplasm but originate in the deepest areas of the basal cell cytoplasm, immediately above (but not within) hemidesmosomes
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Gene product

Name	plectin (PLEC1)

Remark(s)