Literature DB >> 17953701

De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma.

B Drera, G Tadini, F Balbo, L Marchese, S Barlati, M Colombi.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2007        PMID： 17953701     DOI： 10.1111/j.1399-0004.2007.00914.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


× No keyword cloud information.
  4 in total

1.  Embryonic AP1 Transcription Factor Deficiency Causes a Collodion Baby-Like Phenotype.

Authors:  Christina A Young; Richard L Eckert; Gautam Adhikary; Debra Crumrine; Peter M Elias; Miroslav Blumenberg; Ellen A Rorke
Journal:  J Invest Dermatol       Date:  2017-05-16       Impact factor: 8.551

2.  Suppressing AP1 factor signaling in the suprabasal epidermis produces a keratoderma phenotype.

Authors:  Ellen A Rorke; Gautam Adhikary; Christina A Young; Dennis R Roop; Richard L Eckert
Journal:  J Invest Dermatol       Date:  2014-08-22       Impact factor: 8.551

3.  Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis.

Authors:  E Pohler; F Cunningham; A Sandilands; C Cole; S Digby; J R McMillan; S Aristodemou; J A McGrath; F J D Smith; W H I McLean; C S Munro; M Zamiri
Journal:  Br J Dermatol       Date:  2015-08-22       Impact factor: 9.302

4.  Vohwinkel's Syndrome: A Rare Disorder of Keratinization.

Authors:  Nidhi Choudhary; Rahul Ahar; Abhishek De; Projna Biswas
Journal:  Indian J Dermatol       Date:  2014-11       Impact factor: 1.494
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.