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GENATLAS PHENOTYPE

last update : 23-03-2009

Symbol	EBDRO
Location	3p21.31
Name	epidermolysis bullosa dystrophic, generalized other
Other name(s)	epidermolysis bullosa dystrophica, non-Hallopeau-Siemens type
Corresponding gene	COL7A1
Other symbol(s)	RDEB
Main clinical features	severity intermediate between EB dominant type and Hallopeau-Siemens type generalized, moderate extra cutaneous involvement moderate risk of squamous cell carinoma and of death by age 30
Genetic determination	autosomal recessive
Function/system disorder	dermatology
Type	disease

Remark(s)

dystrophic EB subtypes includes: DDEB, generalized ( previous name Pasini and Cockaine-Touraine type), RDEB, severe generalized ( Hallopeau-Siemens) and RDEB generalized other (non-Hallopeau-Siemens type),