Literature DB >> 22336949

Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita.

Neil J Wilson, Mónica L Cárdenas Pérez, Anders Vahlquist, Mary E Schwartz, C David Hansen, W H Irwin McLean, Frances J D Smith.   

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Year:  2012        PMID： 22336949     DOI： 10.1038/jid.2011.484

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  3 in total

1.  KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.

Authors:  Mine Koprulu; Muhammad Naeem; Gökhan Nalbant; Rana M Kamran Shabbir; Tariq Mahmood; Zele Huma; Sajid Malik; Aslıhan Tolun
Journal:  Eur J Hum Genet       Date:  2022-06-09       Impact factor: 4.246

2.  Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene.

Authors:  Qiao Liu; Weiwei Wu; Jiejie Lu; Ping Wang; Feng Qiao
Journal:  Mol Med Rep       Date:  2015-07-08       Impact factor: 2.952

3.  Longitudinal association of atopic dermatitis progression and keratin 6A.

Authors:  Angela Y Zhu; Nandita Mitra; David J Margolis
Journal:  Sci Rep       Date:  2022-08-10       Impact factor: 4.996
  3 in total

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