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cge12241-sup-0001-TableS1.docWord document113KTable S1. Phenotype summary of B3GALTL-negative PPS-like cases reported in this study and literature
cge12241-sup-0002-TableS2.docWord document33KTable S2. Summary of rare likely benign variants identified in B3GALTL
cge12241-sup-0003-FigureS1.tifTIFF image812KFigure S1. (a) Novel B3GALTL mutations in Peters plus syndrome patients identified in this study. The position of each mutation is indicated with a black arrow. (b) Results of TaqMan copy number assays targeting 5′ (intron 1) and 3′ (exon 14) regions of B3GALTL that were performed on DNA samples from Patients 1, 3 and 8, who appeared homozygous for the common c.660+1G>A splicing mutation, alongside a control sample with diploid B3GALTL copy number; haploid copy number for both probes was detected for Patient 1 (arrow) while Patients 3 and 8 were diploid for both probes. (c) Evolutionary conservation of amino acid residues affected by missense mutations identified in Patients 7 and 9; note 100% conservation of both positions in vertebrates (box).

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