Article
Further characterization of the DFNA1 audiovestibular phenotype.
Archives of otolaryngology--head & neck surgery - 1 Jun 1998
Lalwani A K, Jackler R K, Sweetow R W, Lynch E D, Raventós H, Morrow J, King M C, León P E
Abstract excerpt
BACKGROUND: Autosomal dominant, nonsyndromic, hereditary hearing impairment in a large Costa Rican kindred is caused by a mutation in the human homolog of the Drosophila diaphanous gene. OBJECTIVE: To further characterize the phenotype of DFNA1 with comprehensive audiovestibular evaluation and co...
Topics
- Adaptor Proteins, Signal Transducing
- Adult
- Audiometry, Evoked Response
- Audiometry, Pure-Tone
- Audiometry, Speech
- Carrier Proteins
- Child
- Costa Rica
- Deafness
- Electronystagmography
- Endolymphatic Hydrops
- Evoked Potentials, Auditory
- Female
- Formins
- Hearing Loss, Sensorineural
- Humans
- Male
- Phenotype