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
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
Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families.
Mei X et al.
Neural Plasticity, 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
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Yan D et al.
Human Genetics, 2016
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
SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).
Kim HJ et al.
Plos One, 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
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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