Associated Papers
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.
Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review.
Bernardinelli E et al.
Biomedicines, 2023
A New Pathogenic Variant in POU3F4 Causing Deafness Due to an Incomplete Partition of the Cochlea Paved the Way for Innovative Surgery.
Tekin AM et al.
Genes, 2021
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.
Yuan Y et al.
European Journal of Human Genetics : Ejhg, 2020
Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.
Su Y et al.
Bmc Medical Genetics, 2018
A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss.
Huang BQ et al.
Journal of Otology, 2015
De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.
Moteki H et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.
Parzefall T et al.
Human Mutation, 2013
Nonsyndromic X-linked hearing loss.
Song MH et al.
Frontiers in Bioscience (elite Edition), 2012
Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss.
Li J et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2010
Cochlear implantation in children with congenital X-linked deafness due to novel mutations in POU3F4 gene.
Stankovic KM et al.
The Annals of Otology, Rhinology, and Laryngology, 2010
Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.
Lee HK et al.
Physiological Genomics, 2009
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