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cge12088-sup-0001-Figure S1.docWord document22KFig.  S1. Clinical images of patients NG 109-1, (a) general view of the patient (b) patient's scoliosis. Pictures of patients are published with written informed consent from their parents.
cge12088-sup-0002-Figure S2.docWord document22KFig.  S2. Midsagittal T1-weighted sagittal image shows a hypoplastic corpus callosum (a). Lateral ventricles are dysmorphic and parallel to each other on T2-weighted axial image (b). Coronal T2-weighted images demonstrate ‘Viking helmet’ sign on T2-weighted coronal images (c).
cge12088-sup-0003-Figure S3.docWord document22KFig.  S3. Sequence traces of wild-type along with the index case. From up to down, the panels show the sequence traces in the patient's and the mother's and a control subject's, respectively. The predicted amino acids corresponding to each codon are represented above the nucleotide sequences which are marked in bold letters above the chromatograms. For each sequence, the mutated base(s) are shown in red, as are resultant amino acid substitutions. For the wild-type sequences, the altered bases are shown in green. Note that the patient is homozygous for the mutations whereas mother's heterozygous as we expected.
cge12088-sup-0004-Table S1.docWord document45KTable S1. Blocks of homozygosity in affected individual of family NG109.
cge12088-sup-0005-Table S2.docWord document36KTable S2. Coverage distributions and error rates across the whole exome and homozygosity intervals.
cge12088-sup-0006-Table S3.docWord document33KTable S3. Sensitivity and specificity for the detection of variants.
cge12088-sup-0007-Table S4.docWord document30KTable S4. Novel homozygous variants identified within the homozygosity intervals of NG 109-1.

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