Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans

समान संसाधन

• Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
  द्वारा: Tayebi, Naeimeh, और अन्य
  प्रकाशित: (2014)
• Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease
  द्वारा: Weedon, Michael N., और अन्य
  प्रकाशित: (2011)
• An exome sequencing strategy to diagnose lethal autosomal recessive disorders
  द्वारा: Ellard, Sian, और अन्य
  प्रकाशित: (2015)
• 7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance
  द्वारा: Delgado, Sara, और अन्य
  प्रकाशित: (2015)
• Dlx5 homedomain/DNA complex; Structure, binding and effect of mutations related to split-hand and foot malformation syndrome
  द्वारा: Proudfoot, Andrew, और अन्य
  प्रकाशित: (2016)