Appendix 3 of Tang, Mol Vis 2016; 22:917-932.
To access the data, click or select the words “Appendix 3.” (A) Schematic pedigrees of the Family 35 with Y211H mutation. (B) Schematic pedigrees of the Family 34 with I437T mutation. Arrows indicate proband; open symbols: clinically unaffected; solid symbols: clinically affected; +: clinically evaluated; +/−: heterozygous with familial mutation; −/−, wild type. For the FZD4 mutations, the nomenclature is based on GenBank NM_012193.2. (C) Sequence chromatograms of heterozygous mutation c.1330T>C. (D) Protein sequence alignment of human Frizzled-4 with homologues from human and other species: mouse, zebrafish, cow, chicken, rat and frog Frizzled-4 proteins and the human Frizzled family proteins. The novel mutation I437T was indicated.