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Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD. Mburu P, et al. Among authors: petit c. Nat Genet. 2003 Aug;34(4):421-8. doi: 10.1038/ng1208. Nat Genet. 2003. PMID: 12833159
Stereocilin-deficient mice reveal the origin of cochlear waveform distortions.
Verpy E, Weil D, Leibovici M, Goodyear RJ, Hamard G, Houdon C, Lefèvre GM, Hardelin JP, Richardson GP, Avan P, Petit C. Verpy E, et al. Among authors: petit c. Nature. 2008 Nov 13;456(7219):255-8. doi: 10.1038/nature07380. Epub 2008 Oct 8. Nature. 2008. PMID: 18849963 Free PMC article.
Mouse models for human hereditary deafness.
Leibovici M, Safieddine S, Petit C. Leibovici M, et al. Among authors: petit c. Curr Top Dev Biol. 2008;84:385-429. doi: 10.1016/S0070-2153(08)00608-X. Curr Top Dev Biol. 2008. PMID: 19186249 Review.
1,071 results