Literature DB >> 30811667

Hypotrichosis with keratosis follicular and hyperostosis: a new phenotype due to GJA1 mutation.

A C Bursztejn1,2, C Magdelaine3, B Mortemousque4, M Zerah5,6, J L Schmutz1,2, B Leheup2,7.   

Abstract

Entities:  

Year:  2019        PMID： 30811667     DOI： 10.1111/jdv.15405

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN： 0926-9959            Impact factor:   6.166


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  2 in total

Review 1.  Connexin 43 Mutations Lead to Increased Hemichannel Functionality in Skin Disease.

Authors:  Anthony G Cocozzelli; Thomas W White
Journal:  Int J Mol Sci       Date:  2019-12-07       Impact factor: 5.923

2.  Interrogation of Carboxy-Terminus Localized GJA1 Variants Associated with Erythrokeratodermia Variabilis et Progressiva.

Authors:  Sergiu A Lucaciu; Qing Shao; Rhett Figliuzzi; Kevin Barr; Donglin Bai; Dale W Laird
Journal:  Int J Mol Sci       Date:  2022-01-01       Impact factor: 5.923
  2 in total

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