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References OMIM Gene GeneReviews HGMD HGNC
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)