Associated Papers
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
Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes.
Jang JH et al.
Genetic Testing and Molecular Biomarkers, 2019
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
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
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