| 1 | PC112, PC117, PC212, PC217, KRT17, KRT16, KRT6A
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| Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.
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| Terrinoni A, Smith FJ, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh IM, Munro CS, Melino G, McLean WH.
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| J Invest Dermatol 117(6):1391-6. 2001
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| 2 | PC117, KRT16
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| Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.
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| Connors JB, Rahil AK, Smith FJ, McLean WH, Milstone LM.
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| Br J Dermatol 144(5):1058-62. 2001
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| 3 | EPPK, KRT16, KRT9, NEPPK, PC117
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| A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus.
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| Terrinoni A, Puddu P, Didona B, De Laurenzi V, Candi E, Smith FJ, McLean WH, Melino G.
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| J Invest Dermatol 114(6):1136-40.
2000
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| 4 | KRT16, PC117, PC217, KRT17
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| Keratin 16 and keratin 17 mutations cause pachyonychia congenita.
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| McLean WHI, et al.
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| Nat Genet 9 : 273-278. 1995
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