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GENATLAS PHENOTYPE

last update : 05-07-2017

Symbol	EKVP3
Location	6q22.31
Name	erythrokeratodermia variabilis et progressiva 3
Corresponding gene	GJA1
Main clinical features	normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema
Genetic determination	not applicable
Related entries	including PPKCA1 (OMIM104100)
Function/system disorder	dermatology
Type	disease

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