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cge12094-sup-0001-figures1.docWord document202KFig S1. Interspecies conservation of the amino acid concerned by the MED12 missense mutation in patient 68.
cge12094-sup-0002-tables1.docWord document58KTable S1. Candidate genes with numbers of clones added to the custom array-CGH design.
cge12094-sup-0003-tables2.docWord document58KTable S2. Non-pathogenic variant obtained from direct sequencing of the FBN1, TGFBR1, TGFBR2, MED12, UPF3B and ZDHHC9 in the cohort of interest.

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