A novelGJB6missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2008.08796.x/fullpdf
Reference10 articles.
1. Mutations in GJB6 cause hidrotic ectodermal dysplasia;Lamartine;Nat Genet,2000
2. A novel connexin 30 mutation in Clouston syndrome;Smith;J Invest Dermatol,2002
3. Molecular cloning and functional expression of mouse connexin-30, a gap junction gene highly expressed in adult brain and skin;Dahl;J Biol Chem,1996
4. Molecular modeling and mutagenesis of gap junction channels;Kovacs;Prog Biophys Mol Biol,2007
5. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus;Grifa;Nat Genet,1999
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1. A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome;Frontiers of Medicine;2023-01-16
2. A case of hidrotic ectodermal dysplasia with developing eccrine syringofibroadenoma with heterozygous mutation of GJB6 gene;The Journal of Dermatology;2022-09-02
3. Mutant Cx30-A88V mice exhibit hydrocephaly and sex-dependent behavioral abnormalities, implicating a functional role for Cx30 in the brain;Disease Models & Mechanisms;2021-01-01
4. A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia;Hereditas;2020-08-25
5. GJB 6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family;International Journal of Dermatology;2019-01-08
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