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Noonan syndrome (NS) is an autosomal dominant condition with facial dysmorphy, congenital cardiac defects and short stature. A gene for NS has previously been linked to a 14 cM region in 12q24.2 We performed linkage analysis in a four generation Belgian family with NS in some individuals and cardio- ...
Presentation on exon skipping in Duchenne and Becker muscular dystrophy, explaining the approach and some results
Editorial European Journal of Human Genetics (2008)16, 403-404
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