Associated Papers
Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.
Florea L et al.
Genes, 2021
Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.
Nabhan MM et al.
Genetics and Molecular Research : Gmr, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
Leitch CC et al.
Nature Genetics, 2008
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