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FilenameFormatSizeDescription
ajmga36128-sm-0001-SuppFig-S1.tif2345KFIG. S1. Photographs taken at 10 years of age demonstrating various clinical features of the patient. A: Marked skin hyperextensibility. B: Normal facial features. C: Mild pectus carinatum. D: Ulnar bowing of forearms. E: Hyperflexible joints. F: Pes planus.
ajmga36128-sm-0001-SuppFig-S2.tif498KFIG. S2. Sanger sequencing for patient and family at B4GALT7 nucleotide positions 122 (reference allele, T) and 808 (reference allele, C). Top chromatogram for each individual is position 122 and bottom chromatogram is position 808. The c.l22T>C was transmitted from the father to the patient, and the c.808C>T was transmitted from the mother to the patient, resulting in a compound heterozygous state for the patient. The unaffected sibling is homozygous wild type for both alleles.
ajmga36128-sm-0001-SuppFig-S3.tif1430KFIG. S3. A: Amino acid sequence alignments show homology across evolution at both leucine 41 and arginine 270. Alignments were generated using NCBI HomoloGene. B: Sequence annotation of β1,4-galactosyltransferase 7 protein from UniProt. The protein is predicted to be a Type II transmembrane protein in the Golgi membrane. Amino acids 1-30 are predicted to be cytoplasmic (gray), 31–51 are predicted to be a transmembrane domain (blue) and 52–327 are predicted to be a Golgi lumenal domain (green). Approximate locations of mutations found in our patient (p.L41P and p.R270C), as well as other previously described pathogenic variants (p.A186D, p.L206P) are indicated above the figure.
ajmga36128-sm-0001-SuppTab-S1.docx112KTable SI. Summary of Patient's Variants
ajmga36128-sm-0001-SuppData-S1.docx115KSupplementary Methods.

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