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Journal of Medical Genetics|April 7, 2009
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionF Lacbawan, B D Solomon, E Roessler, et al.American Journal of Medical Genetics. Part A|September 19, 2009
Expanding CEP290 mutational spectrum in ciliopathiesLorena Travaglini, Francesco Brancati, Tania Attie-Bitach, et al.Pageof 40