Associated Papers
Assessment of Gap Junction Protein Beta-2 rs3751385 Gene Polymorphism in Psoriasis Vulgaris.
Stylianaki EA et al.
Journal of Clinical Medicine Research, 2019
Hypotrichosis with keratosis follicular and hyperostosis: a new phenotype due to GJA1 mutation.
Bursztejn AC et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
Yang R et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Novel mutations in GJB6 and GJB2 in Clouston syndrome.
Liu YT et al.
Clinical and Experimental Dermatology, 2015
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.
Boyden LM et al.
The Journal of Investigative Dermatology, 2015
Syndromic and non-syndromic disease-linked Cx43 mutations.
Laird DW
Febs Letters, 2014
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Paznekas WA et al.
Human Mutation, 2009
Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43).
Musa FU et al.
Eye (london, England), 2009
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease.
Laird DW
The Journal of Biological Chemistry, 2008
Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia.
Kellermayer R et al.
European Journal of Dermatology : Ejd, 0
Mutation-Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype.
Khatter S et al.
Indian Journal of Dermatology, 0
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