Literature DB >> 33911497

Huge Steatocystoma Multiplex with New Point Mutation in the Exon 1 of KRT 17 Gene.

Jun Young Kim1, Jun Hong Park1, Chihyeon Sohng1, Yong Hyun Jang1, Seok-Jong Lee1, Weon Ju Lee1.   

Abstract

Entities:  

Year:  2018        PMID： 33911497      PMCID： PMC7992486          DOI： 10.5021/ad.2018.30.5.633

Source DB:  PubMed          Journal:  Ann Dermatol        ISSN： 1013-9087            Impact factor:   1.444


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  5 in total

1.  Giant steatocystoma multiplex limited to the scalp.

Authors:  S Y Jeong; J H Kim; S H Seo; S W Son; I H Kim
Journal:  Clin Exp Dermatol       Date:  2009-05-18       Impact factor: 3.470

Review 2.  Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.

Authors:  A D Irvine; W H McLean
Journal:  Br J Dermatol       Date:  1999-05       Impact factor: 9.302

3.  Steatocystoma multiplex-a rare genetic disorder: a case report and review of the literature.

Authors:  Hemlata T Kamra; Pradeep A Gadgil; Ajay G Ovhal; Rahul R Narkhede
Journal:  J Clin Diagn Res       Date:  2013-01-01

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

Authors:  S P Covello; F J Smith; J H Sillevis Smitt; A S Paller; C S Munro; M F Jonkman; J Uitto; W H McLean
Journal:  Br J Dermatol       Date:  1998-09       Impact factor: 9.302

5.  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
  5 in total

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