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t/gene-gjb6

GJB6 gene

Discuss publications and research concerning the GJB6 gene.

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Related literature

GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.
GJB6
[A gene study of a family with hidrotic ectodermal dysplasia].
GJB6
Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging.
GJB6
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.
GJB6
Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss.
GJB6
Novel human mitochondrial tRNA phe mutation in a patient with hearing impairment: a case study.
GJB6
Pediatric cholesteatoma and variants in the gene encoding connexin 26.
GJB6
Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele.
GJB6
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
GJB6
Clouston syndrome can mimic pachyonychia congenita.
GJB6

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