| 1 | KRT1, IHCM, PPKS3
|
| A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
|
| Richardson ES, Lee JB, Hyde PH, Richard G.
|
| J Invest Dermatol 126(1):79-84. 2006
|
| 2 | KRT1, PPKS3
|
| Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with tonotubular keratin.
|
| Terron-Kwiatkowski A, van Steensel MA, van Geel M, Lane EB, McLean WH, Steijlen PM.
|
| J Invest Dermatol 126(3):607-13. 2006
|
| 3 | PPKS3, KRT1, EHK2, KRT10
|
| Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.
|
| Virtanen M, Smith SK, Gedde-Dahl T Jr, Vahlquist A, Bowden PE.
|
| J Invest Dermatol 121(5):1013-20. 2003
|
| 4 | KRT1, PPKS3
|
| Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.
|
| Whittock NV, Smith FJ, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RA, McLean WH, McGrath JA.
|
| J Invest Dermatol 118(5):838-44. 2002
|
| 5 | PPKS3, KRT1
|
| A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.
|
| Kimonis V, et al.
|
| J Invest Dermatol 103 : 764-769. 1994
|