Associated Papers
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
Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4).
Ye X et al.
Dna Sequence : the Journal of Dna Sequencing and Mapping, 2004
Beyond Mendel: an evolving view of human genetic disease transmission.
Badano JL et al.
Nature Reviews. Genetics, 2002
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
Katsanis N et al.
American Journal of Human Genetics, 2002
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