Deafness due to Pro250Arg mutation of FGFR3

Lancet

Volumn 351, Issue 9106, 1998, Pages 877-878

  Hollway, Georgina E ^a   Suthers, Graeme K ^b   Battese, Katie M ^b   Turner, Anne M ^b   David, David J ^b   Mulley, John C ^b  

^a South Australian Clinical Genetics Service   (Australia)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 3; FIBROBLAST GROWTH FACTOR RECEPTOR;

ADULT; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CRANIOFACIAL SYNOSTOSIS; FAMILY STUDY; FEMALE; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; MALE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SHORT SURVEY;

EID: 0032554570     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(98)24012-8     Document Type: Article

References (5)

1. 1 Muenke M, Schell U. Fibroblast-growth-factor receptor mutations in human skeletal disorders. Trends Genet 1995; 11: 308-13.
2. 2 Muenke M, Gripp KW, McDonald-McGinn DM, et al. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 1997; 60: 555-64.
3. 3 Moloney DM, Wall SA, Sashworth GJ, et al. Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet 1997; 349: 1059-62.
4. 4 Lesperance MM, Hall III JW, Bess FH, et al. A gene for autosomal dominant nonsyndomic hereditary hearing impairment maps to 4p16.3. Hum Mol Genet 1995; 4: 1967-72.
5. 5 Colvin JS, Bohne BA, Harding GW, McEwen DG, Ornitz DM. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nat Genet 1996; 12: 390-97.