Disease: Progressive hearing loss stapes fixation
- <em>SMARCA4</em> mutation causes human otosclerosis and a similar phenotype in mice
- A Case Series of X-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations
- A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2)
- Cleft Palate Patient With Conductive Hearing Loss Due to Stapes Fixation
- Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families
- Clinical aspects of otosclerotic ossicular chain fixations
- Cochlear implantation using a custom guide catheter in 14 patients with incomplete partition type III
- Congenital stapes suprastructure fixation presenting with fluctuating auditory symptoms: A case report
- Facial nerve stimulation following cochlear implantation for X-linked stapes gusher syndrome leading to identification of a novel POU3F4 mutation
- Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers
- HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report
- Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital?
- New Imaging Findings of Incomplete Partition Type III Inner Ear Malformation and Literature Review
- Preoperative computed tomography scan may fail to predict perilymphatic gusher
- Retrospective Study of 157 Patients with Otosclerosis to Evaluate Association Between Carhart Notch on the Preoperative Bone-Conduction Audiogram and Postoperative Hearing and Balance Evaluated by the Vestibular Disorders Activities of Daily Living Scale
- Stapedectomy
- Stapes surgery in osteogenesis imperfecta: retrospective analysis of 18 operated ears
- Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing
- X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4
- X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care