A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies
2010 | journal article
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A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies
Pawlik, B.; Mir, A.; Iqbal, H.; Li, Y.; Nürnberg, G.; Becker, C. & Qamar, R. et al. (2010)
Molecular Syndromology, 1(1) pp. 27-34. DOI: https://doi.org/10.1159/000276763