Condition: Bardet-Biedl syndrome 4 (disorder)
rs113994191 in
BBS4 gene and
Bardet-Biedl syndrome 4 (disorder)
PMID 26518167 2015 Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.
PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
PMID 12872256 2003 Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.
PMID 11381270 2001 Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
PMID 15770229 2005 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
PMID 12677556 2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
PMID 15666242 2005 Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
PMID 12016587 2002 BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.