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GENATLAS PHENOTYPE

last update : 07-11-2016

Symbol	PPKS2
Location	6p24.3
Name	palmoplantar keratoderma (hyperkeratosis) striata
Corresponding gene	DSP
Other symbol(s)	PPK6
Main clinical features	characterized by a linear pattern of skin thickening on the palms and flexion aspect of the fingers affected individuals developed palmoplantar thickening in the first or early second decade of life; most prominent in a linear pattern along the flexor aspects of the fingers and over pressure points on the soles
Genetic determination	autosomal dominant
Related entries	PPKS1, PPKS3
Function/system disorder	connective tissue
Type	disease

Gene product

Name	desmoplakin (DSP)

Remark(s)