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Features include: Hyposmia, Conductive hearing impairment, and Atresia of the external auditory canal.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Ears | 1 | Conductive hearing impairment |
TSHZ1 function has not been fully characterized.
Aural atresia, congenital has limited evidence linking it to mutations in the TSHZ1 gene on chromosome 18.
Genetic testing for TSHZ1 is available. Testing is considered research-grade for diagnosis.
Biomarker and diagnostic research for aural atresia, congenital has been reported in the published literature.
No clinical trials have been registered for aural atresia, congenital.
28 publications have been identified in PubMed for aural atresia, congenital. Research spans Clinical Trial Publication (36%), Review / Meta-Analysis (21%), and Case Report / Case Series (11%).
Research Type | Count | % of Total |
|---|---|---|
Clinical study results | 10 | 36% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:57 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about aural atresia, congenital
6 |
21% |
Patient case studies | 3 | 11% |
Laboratory research | 3 | 11% |
Disease patterns and progression | 3 | 11% |
Testing and diagnosis research | 2 | 7% |
New treatment approaches | 1 | 4% |
Yang J (2026). [PMID: 41944340](https://pubmed.ncbi.nlm.nih.gov/41944340/). *Acta Otolaryngol*. [Epidemiology / Natural History]
Wang Y (2026). [PMID: 41276662](https://pubmed.ncbi.nlm.nih.gov/41276662/). *Eur Arch Otorhinolaryngol*. [Gene Therapy / Novel Therapeutics]
Kim D (2026). [PMID: 41373127](https://pubmed.ncbi.nlm.nih.gov/41373127/). *Otol Neurotol*. [Basic Science / Preclinical]
Kesser BW (2026). [PMID: 41469315](https://pubmed.ncbi.nlm.nih.gov/41469315/). *Otolaryngol Clin North Am*. [Review / Meta-Analysis]
Khurayzi T (2026). [PMID: 41747233](https://pubmed.ncbi.nlm.nih.gov/41747233/). *Sci Prog*. [Case Report / Case Series]
Alemu RZ (2026). [PMID: 41706603](https://pubmed.ncbi.nlm.nih.gov/41706603/). *Trends Hear*. [Clinical Trial Publication]
Patel EJ (2026). [PMID: 40772606](https://pubmed.ncbi.nlm.nih.gov/40772606/). *Laryngoscope*. [Clinical Trial Publication]
Li C (2026). [PMID: 41803072](https://pubmed.ncbi.nlm.nih.gov/41803072/). *Otol Neurotol*. [Clinical Trial Publication]
Yeh CC (2026). [PMID: 41865284](https://pubmed.ncbi.nlm.nih.gov/41865284/). *Otolaryngol Head Neck Surg*. [Clinical Trial Publication]
Sun PH (2025). [PMID: 39733585](https://pubmed.ncbi.nlm.nih.gov/39733585/). *Int J Pediatr Otorhinolaryngol*. [Clinical Trial Publication]