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BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E. Deveault C, et al. Among authors: vincent a. Hum Mutat. 2011 Jun;32(6):610-9. doi: 10.1002/humu.21480. Epub 2011 Mar 22. Hum Mutat. 2011. PMID: 21344540
2,564 results