PubMed (OMIM) for id: 314107

Year	Number of Results
1951	1
1961	1
1968	1
1977	1
1986	1
1990	1
1992	1
1994	1
1995	1
1997	1
1998	1
1999	1
2001	2
2002	1
2023	0

1

Pachyonychia congenita; a report of six cases in one family, with a note on linkage data.

Jackson AD, Lawler SD. Jackson AD, et al. Ann Eugen. 1951 Jan;16(1):142-6. doi: 10.1111/j.1469-1809.1951.tb02468.x. Ann Eugen. 1951. PMID: 14885876 No abstract available.

2

Steatocystoma multiplex with pachyonychia congenita. Eight cases in four generations.

VINEYARD WR, SCOTT RA. VINEYARD WR, et al. Arch Dermatol. 1961 Nov;84:824-7. doi: 10.1001/archderm.1961.01580170118016. Arch Dermatol. 1961. PMID: 13926103 No abstract available.

3

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

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. Terrinoni A, et al. J Invest Dermatol. 2001 Dec;117(6):1391-6. doi: 10.1046/j.0022-202x.2001.01565.x. J Invest Dermatol. 2001. PMID: 11886499 Free article.

4

A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2.

Hashiguchi T, Yotsumoto S, Shimada H, Terasaki K, Setoyama M, Kobayashi K, Saheki T, Kanzaki T. Hashiguchi T, et al. J Invest Dermatol. 2002 Mar;118(3):545-7. doi: 10.1046/j.0022-202x.2001.01701.x. J Invest Dermatol. 2002. PMID: 11874497 Free article. No abstract available.

5

Novel keratin 17 mutations in pachyonychia congenita type 2.

Smith FJ, Coleman CM, Bayoumy NM, Tenconi R, Nelson J, David A, McLean WH. Smith FJ, et al. J Invest Dermatol. 2001 May;116(5):806-8. doi: 10.1046/j.1523-1747.2001.01335.x. J Invest Dermatol. 2001. PMID: 11348474 Free article.

6

Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.

Celebi JT, Tanzi EL, Yao YJ, Michael EJ, Peacocke M. Celebi JT, et al. J Invest Dermatol. 1999 Nov;113(5):848-50. doi: 10.1046/j.1523-1747.1999.00762.x. J Invest Dermatol. 1999. PMID: 10571744 Free article.

7

Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.

Covello SP, Smith FJ, Sillevis Smitt JH, Paller AS, Munro CS, Jonkman MF, Uitto J, McLean WH. Covello SP, et al. Br J Dermatol. 1998 Sep;139(3):475-80. doi: 10.1046/j.1365-2133.1998.02413.x. Br J Dermatol. 1998. PMID: 9767294

8

Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.

Smith FJ, Corden LD, Rugg EL, Ratnavel R, Leigh IM, Moss C, Tidman MJ, Hohl D, Huber M, Kunkeler L, Munro CS, Lane EB, McLean WH. Smith FJ, et al. J Invest Dermatol. 1997 Feb;108(2):220-3. doi: 10.1111/1523-1747.ep12335315. J Invest Dermatol. 1997. PMID: 9008238 Free article.

9

Keratin 16 and keratin 17 mutations cause pachyonychia congenita.

McLean WH, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, Dopping-Hepenstal PJ, Griffiths WA, Eady RA, Higgins C, et al. McLean WH, et al. Nat Genet. 1995 Mar;9(3):273-8. doi: 10.1038/ng0395-273. Nat Genet. 1995. PMID: 7539673

10

A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.

Munro CS, Carter S, Bryce S, Hall M, Rees JL, Kunkeler L, Stephenson A, Strachan T. Munro CS, et al. J Med Genet. 1994 Sep;31(9):675-8. doi: 10.1136/jmg.31.9.675. J Med Genet. 1994. PMID: 7529318 Free PMC article.

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