Fig. 2: The results of genetic analysis.
From: Novel large deletion involving EVC and EVC2 in Ellis–van Creveld syndrome
A The results of Sanger sequencing. The patient and his father share a heterozygous frameshift variant of EVC2: c.1991dup:[p.Lys665GlufsTer19]. B Results of multiplex ligation-dependent probe amplification. The patient and his mother both have the deletion encompassing exon 1 in EVC and exons 1–7 in EVC2 (region marked by pink shading).
