Associated Papers
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
21463199 (PubMed )
Supplement: supplement_1.pdf
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.
Harville HM et al.
Journal of Medical Genetics, 2010
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.
de Pontual L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
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