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GENATLAS PHENOTYPE

last update : 14/10/2005

Symbol	PC112
Location	12q13
Name	pachyonychia congenita, type 1
Other name(s)	Jadassohn-Lewandowsky syndrome
Corresponding gene	KRT6A
Other symbol(s)	POC1B, PCHC2B
Main clinical features	ectodermal dysplasia, dystrophic nails, oral leukokeratoses, palmoplantar keratoderma (hyperkeratosis), hyperhidrosis
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Gene product

Name	keratin 6A, type II (KRT6A)

Remark(s)