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GENATLAS PHENOTYPE

last update : 08-06-2018

Symbol	PC212
Location	12q13.13
Name	pachyonychia congenita type 2
Other name(s)	Jackson-Lawler type
Corresponding gene	KRT6B
Other symbol(s)	PCHCB
Main clinical features	palmoplantar keratoderma, with ectodermal dysplasia, multiple epidermal cysts, hair abnormalities, corneal dystrophy and natal teeth
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Gene product

Name	keratin 6B, type II (KRT6B)

Remark(s)