Making sense of nonsyndromic deafness

Archives of Otolaryngology - Head and Neck Surgery

Volumn 129, Issue 4, 2003, Pages 405-406

  Smith, Richard J H ^a   Huygen, Patrick L M ^b  

^a UNIVERSITY OF IOWA   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 5Q; DISEASE ASSOCIATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HEARING IMPAIRMENT; NOTE; SEQUENCE HOMOLOGY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CARRIER PROTEINS; DEAFNESS; HUMANS; MEMBRANE PROTEINS; MUTATION; SYNDROME;

EID: 0037385833     PISSN: 08864470     EISSN: None     Source Type: Journal    
DOI: 10.1001/archotol.129.4.405     Document Type: Note

References (12)

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2. Lynch ED, Lee MK, Morrow JE, et al. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science. 1997;278:1315-1318.
3. Van Camp G, Smith RJH. Hereditary Hearing Loss Homepage. Available at: http://dnalab-www.uia.ac.be/dnalab/hhh/. Accessed September 2002.
4. Green GE, Scott DA, McDonald JM, et al. Carrier rates in the Midwestern United States for GJB2 mutations causing inherited deafness. JAMA. 1999;281:2211-2216.
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9. Pennings RJE, Huygen PLM, Van Camp G, et al. A review of progressive phenotypes in nonsyndromic autosomal dominant hearing impairment. Audiolog Med. In press.
10. Huygen PLM, Pennings RJE, Cremers CWRJ. Characterizing and distinguishing progressive phenotypes in nonsyndromic autosomal dominant hearing impairment. Audiolog Med. In press.
11. Campbell C, Cucci RA, Green GE, et al. Pendred syndrome, DFNB4 and PDS - dentification of eight novel mutations and phenotype-genotype correlations. Hum Mutat. 2001;17:403-411.
12. Vervoort V, Smith RJH, O'Brien J, et al. Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. European J Hum Genet. 2002;10:757-766.