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GENATLAS PHENOTYPE

last update : 04/10/2008

Symbol	EBS5A
Location	12q13.2-q13.3
Name	epidermolysis bullosa herpetiformis, Dowling-Meara type
Other name(s)	epidermolysis bullosa simplex, Dowling-Meara 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 . on electron microscopy of large cytoplasmic clumps of tonofilaments, which are intermediate filaments composed of keratin
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Gene product

Name	keratin 5, type II (KRT5)

Remark(s)