Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.

American journal of audiology - 1 Jun 2014

Stanton Susan G, Griffin Anne, Stockley Tracy L, Brown Christine, Young Terry-Lynn, Benteau Tammy, Abdelfatah Nelly

Abstract excerpt

PURPOSE: To describe the inheritance patterns and auditory phenotype features of 3 Canadian families with mutations in 2 X-linked "deafness" genes (DFNX). METHOD: Audiological, medical, and family histories were collected and family members interviewed to compare hearing thresholds and case histories between cases with mutations in SMPX versus POU3F4. RESULTS: The family pedigrees reveal characteristic X-linked...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Audiometry, Pure-Tone
Share to Auditory Threshold

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Genetic Diseases, X-Linked

Share to Hearing Loss, Conductive

Share to Hearing Loss, Sensorineural

Share to Muscle Proteins

Share to POU Domain Factors

Source

Identifiers

PMID: 24687041
DOI: 10.1044/2014_AJA-13-0040

Genes

SMPX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.PMID 24687041Read ↗

Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.Semantic proximity Read ↗

Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impairment.Semantic proximity Read ↗

X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4.Semantic proximity Read ↗

Deletion of and Novel Missense Mutation in POU3F4 in 2 Families Segregating X-Linked Nonsyndromic DeafnessSemantic proximity Read ↗

Nonsyndromic X-linked hearing loss.Semantic proximity Read ↗

De Novo Mutation in X-Linked Hearing Loss–Associated POU3F4 in a Sporadic Case of Congenital Hearing LossSemantic proximity Read ↗

A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.Semantic proximity Read ↗

A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family.Semantic proximity Read ↗

Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family.Semantic proximity Read ↗

Alport syndrome: clinical update.Semantic proximity Read ↗

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.Semantic proximity Read ↗

<i>PHEX</i> Gene Dosage Drives Meniere’s Disease and Related Audiovestibular Phenotypes in X-Linked HypophosphatemiaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.