Article
A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.
Human molecular genetics - 1 Sept 1996
del Castillo I, Villamar M, Sarduy M, Romero L, Herraiz C, Hernández F J, Rodríguez M, Borrás I, Montero A, Bellón J, Tapia M C, Moreno F
Abstract excerpt
Non-syndromic X-linked deafness is highly heterogeneous. At least five different clinical forms have been described, but only two loci have been mapped. Here we report a Spanish family affected by a previously undescribed X-linked form of hearing impairment. Deafness is non-syndromic, sensorineur...
Topics
- Audiometry, Pure-Tone
- Chromosome Mapping
- Deafness
- Female
- Genetic Linkage
- Genotype
- Haplotypes
- Humans
- Male
- Pedigree
- Spain
- X Chromosome
