Literature DB >> 21093221

Autosomal recessive congenital ichthyosis maps to chromosome 15q26.3 in an isolated aboriginal population from southern Taiwan.

Wei-Ming Wu1, Yun-Shien Lee.   

Abstract

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Year:  2010        PMID： 21093221     DOI： 10.1016/j.jdermsci.2010.10.011

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  2 in total

1.  A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.

Authors:  Shirli Israeli; Ziyad Khamaysi; Dana Fuchs-Telem; Janna Nousbeck; Reuven Bergman; Ofer Sarig; Eli Sprecher
Journal:  Am J Hum Genet       Date:  2011-04-08       Impact factor: 11.025

2.  Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis.

Authors:  S Polubothu; M Glover; S E Holder; V A Kinsler
Journal:  Br J Dermatol       Date:  2018-09-20       Impact factor: 9.302
  2 in total

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