Fig. 1From: A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case reportFiltering strategy used for identification of a causative mutation using trio analysis and NGS-gene panel (a). DNA electrophoregram with the c.C232T; p.Q78X mutation in exon 3 of CTNNB1 (b)Back to article page