WDR35mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35608/fullpdf
Reference18 articles.
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2. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome;Arts;J Med Genet,2011
3. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19;Bredrup;Am J Hum Genet,2011
4. Distribution and intensity of constraint in mammalian genomic sequence;Cooper;Genome Res,2005
5. Identifying a high fraction of the human genome to be under selective constraint using GERP++;Davydov;PLoS Comput Biol,2010
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