Associated Papers
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
Feng H et al.
Orphanet Journal of Rare Diseases, 2024
Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review.
Bernardinelli E et al.
Biomedicines, 2023
Genetic Load of Alternations of Transcription Factor Genes in Non-Syndromic Deafness and the Associated Clinical Phenotypes: Experience from Two Tertiary Referral Centers.
Jo HD et al.
Biomedicines, 2022
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
Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.
Su Y et al.
Bmc Medical Genetics, 2018
A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family.
Du W et al.
Chinese Medical Journal, 2017
Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III.
Choi BY et al.
The Laryngoscope, 2016
Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.
Pollak A et al.
Plos One, 2016
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
De novo large genomic deletions involving POU3F4 in incomplete partition type III inner ear anomaly in East Asian populations and implications for genetic counseling.
Choi JW et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2015
Destabilization and mislocalization of POU3F4 by C-terminal frameshift truncation and extension mutation.
Choi BY et al.
Human Mutation, 2013
Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.
Choi BY et al.
Plos One, 2013
Nonsyndromic X-linked hearing loss.
Song MH et al.
Frontiers in Bioscience (elite Edition), 2012
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
Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants.
Lee HK et al.
Clinical Genetics, 2009