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
Lango Allen, H
Turnpenny, Peter D.
Weedon, Michael N.
Journal of Medical Genetics
BMJ Publishing Group
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Split-hand/foot malformation type 1 is an autosomal dominant condition with reduced penetrance and variable expression. We report three individuals from two families with split-hand/split-foot malformation (SHFM) in whom next generation sequencing was performed to investigate the cause of their phenotype.
This is a freely-available open access publication. Please cite the published version which is available via the DOI link in this record
Journal of Medical Genetics, 2014