Literature DB >> 25385569

Mutations in GJB6 causing phenotype resembling pachyonychia congenita.

G I Hale1, N J Wilson2, F J D Smith2, G Wylie3, M E Schwartz4, M Zamiri5,3.   

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Year:  2015        PMID： 25385569     DOI： 10.1111/bjd.13520

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  1 in total

1.  Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.

Authors:  Anna Kutkowska-Kaźmierczak; Katarzyna Niepokój; Katarzyna Wertheim-Tysarowska; Aleksandra Giza; Maria Mordasewicz-Goliszewska; Jerzy Bal; Ewa Obersztyn
Journal:  J Appl Genet       Date:  2015-01-10       Impact factor: 3.240
  1 in total

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