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. 2012 Oct 10;21(5):535–539. doi: 10.1038/ejhg.2012.221

Table 3. NF1 mutations in published cases with WS.

Number Reference Mutation detected Type of mutation
1 Tassabehji et al15 42 bp Deletion, exon 28 In-frame
2 Upadhyaya et al16 8o kb deletion Gross deletion
3 Castle et al 28 S1745X Nonsense
4 Castle et al 28 >20 bp Deletion Deletion
5 Castle et al,28 Upadhyaya et al9 c.2970delAAT In-frame