Associated Papers
A novel GRHL2 nonsense variant impairs auditory function via a gain-of-function mechanism in autosomal dominant hearing loss.
Ma Y et al.
Acta Oto-laryngologica, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.
Characterization of a novel GRHL2 mutation reveals molecular mechanisms underlying autosomal dominant hearing loss (DFNA28): insights from structural and functional studies.
Oziębło D et al.
Human Molecular Genetics, 2025
Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature.
Trebusak Podkrajsek K et al.
Genes, 2021
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Petrof G et al.
American Journal of Human Genetics, 2014
Confirmation of GRHL2 as the gene for the DFNA28 locus.
Vona B et al.
American Journal of Medical Genetics. Part A, 2013
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