Literature DB >> 16990804

Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis.

Nicolas Chassaing, Jean Kanitakis, Stéphanie Sportich, Marie-Pierre Cordier-Alex, Matthias Titeux, Patrick Calvas, Alain Claudy, P Berbis, Alain Hovnanian.   

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Year:  2006        PMID: 16990804     DOI: 10.1038/sj.jid.5700553

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


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  5 in total

1.  Gene expression profiling in pachyonychia congenita skin.

Authors:  Yu-An Cao; Robyn P Hickerson; Brandon L Seegmiller; Dmitry Grapov; Maren M Gross; Marc R Bessette; Brett S Phinney; Manuel A Flores; Tycho J Speaker; Annaleen Vermeulen; Albert A Bravo; Anna L Bruckner; Leonard M Milstone; Mary E Schwartz; Robert H Rice; Roger L Kaspar
Journal:  J Dermatol Sci       Date:  2015-01-14       Impact factor: 4.563

Review 2.  The molecular basis of human keratin disorders.

Authors:  Meral Julia Arin
Journal:  Hum Genet       Date:  2009-02-27       Impact factor: 4.132

3.  A Novel non-sense Mutation in Keratin 10 Causes a Familial Case of Recessive Epidermolytic Ichthyosis.

Authors:  Jeydith A Gutierrez; Zeina C Hannoush; Luis G Vargas; Allison Momany; Carmen C Garcia; Jeffrey C Murray; Martine Dunnwald
Journal:  Mol Genet Genomic Med       Date:  2013-07-01       Impact factor: 2.183

4.  Epidermolytic Nevus: An Instance of Mosaic Epidermolytic Ichthyosis.

Authors:  Keshavmurthy A Adya; Arun C Inamadar; Ajit B Janagond; Aparna Palit
Journal:  Indian Dermatol Online J       Date:  2020-03-09

5.  First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.

Authors:  Andrea Diociaiuti; Daniele Castiglia; Marialuisa Corbeddu; Roberta Rotunno; Sabrina Rossi; Elisa Pisaneschi; Claudia Cesario; Angelo Giuseppe Condorelli; Giovanna Zambruno; May El Hachem
Journal:  Int J Mol Sci       Date:  2020-10-18       Impact factor: 5.923

  5 in total

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