Affiliation: National Institutes of Health
- Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)R Morell
Department of Zoology, Michigan State University, East Lansing, USA
Hum Mol Genet 6:659-64. 1997....
- Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variationJ H Asher
Department of Zoology, Michigan State University, East Lansing, Michigan, 48824, USA
Genomics 34:285-98. 1996..These BC1 mice provide an opportunity to identify genes that interact with and modify the expression of Pax3 and serve as a model to identify the genes that modify the expression of human PAX3 mutations...
- Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndromeJ H Asher
Department of Zoology, Michigan State University, East Lansing 48824, USA
Hum Mutat 7:30-5. 1996....
- A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian familyR Morell
Department of Zoology, Michigan State University, East Lansing 48825 1115
Hum Mol Genet 1:243-7. 1992..We propose that the WS1 phenotype in this family is due to loss of function of HuP2 and discuss two mechanisms for the dominant effect of this mutation...
- Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humansO Vahava
Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Tel Aviv 69978, Israel
Science 279:1950-4. 1998..A truncated protein presumably impairs high-affinity binding of this transcription factor in a dominant negative fashion, leading to progressive hearing loss...
- Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2Y Liang
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, RockvilleMaryland 20850, USA
Am J Hum Genet 62:904-15. 1998..Genetic mapping has refined sh2 to a 0.6-cM interval of chromosome 11. Three homologous genes map within the sh2 and DFNB3 intervals, suggesting that sh2 is the homologue of DFNB3...