Skip to main content
. 2012 Aug 15;49(3):582–588. doi: 10.1007/s12031-012-9871-9

Table 2.

Patients carrying variants both in DVLs genes and in a second core PCP gene

DVL variant PCP gene variants Clinical phenotype
DVL2 p. Ala111Val CELSR1 p.Thr346Serb Lipoma
DVL2 p.Thr535Ile VANGL2 p. Arg135Trpa MMC
DVL2 p. Glu620X VANGL2 p. Arg482Hisa CA
DVL3 p. Ile353Val VANGL1 p. Ala404Serc CA