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Fig. S1. FRAS1 mutations in the family. (a) FRAS1 c.2186G>T (p.Cys729Phe) is present in Patients I.2 and I.3, but not in Patient II.3. (b) FRAS1 c.11438T>C (p.Leu3813Pro) is present in Patient I.4.

Fig. S2. STRA6 mutations in the family. (a) STRA6 c.52_53insGACT (p.Tyr18*) is present in Patients I.1, II.3. and III.2. (b) STRA6 c.1931C>T (p.Thr644Met) is present in Patient I.2.

Additional Supporting information may be found in the online version of this article.

CGE_1851_sm_FigureS1.eps728KSupporting info item
CGE_1851_sm_FigureS2.eps855KSupporting info item

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