Literature DB >> 21597676

Palmoplantar hyperkeratoses and hypopigmentation. Cole disease.

Astrid Schmieder1, Ingrid Hausser, Stefan W Schneider, Sergij Goerdt, Wiebke K Peitsch.   

Abstract

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Year:  2011        PMID： 21597676     DOI： 10.2340/00015555-1122

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   4.437


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  2 in total

1.  Cole Disease Results from Mutations in ENPP1.

Authors:  Ori Eytan; Fanny Morice-Picard; Ofer Sarig; Khaled Ezzedine; Ofer Isakov; Qiaoli Li; Akemi Ishida-Yamamoto; Noam Shomron; Tomer Goldsmith; Dana Fuchs-Telem; Noam Adir; Jouni Uitto; Seth J Orlow; Alain Taieb; Eli Sprecher
Journal:  Am J Hum Genet       Date:  2013-09-26       Impact factor: 11.025

Review 2.  Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.

Authors:  Douglas Ralph; Michael A Levine; Gabriele Richard; Michelle M Morrow; Elizabeth K Flynn; Jouni Uitto; Qiaoli Li
Journal:  Hum Mutat       Date:  2022-05-18       Impact factor: 4.700
  2 in total

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