Disease: Deafness mixed with perilymphatic Gusher- X-linked
- 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 new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3)
- 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)
- 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)
- Audiologic features of the X-linked progressive mixed deafness syndrome with perilymphatic gusher during stapes gusher
- Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21
- Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families
- Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery)
- Cochlear implantation using a custom guide catheter in 14 patients with incomplete partition type III
- Computed tomographic diagnosis of X-linked congenital mixed deafness, fixation of the stapedial footplate, and perilymphatic gusher
- 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
- Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher
- New Imaging Findings of Incomplete Partition Type III Inner Ear Malformation and Literature Review
- Noninvasive assessment of the intralabyrinthine pressure. A new technique applied to patients with X-linked progressive mixed deafness syndrome with perilymphatic gusher during stapes surgery
- Perilymphatic gusher and stapes surgery. A predictable complication?
- Preoperative computed tomography scan may fail to predict perilymphatic gusher
- Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing
- The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK
- X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4
- X-linked deafness, stapes gushers and a distinctive defect of the inner ear
- X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care
- X-linked mixed deafness syndrome with congenital fixation of the stapedial footplate and perilymphatic gusher (DFN3)
- X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher
- X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34
- X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery
- X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21