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Ehlers-Danlos, Cutis Laxa e Aneurismo Aórtico |
Painel por Sequenciamento de Próxima Geração |
FBLN5, EFEMP2, LTBP4, ATP6V0A2, PYCR1, ELN, FBLN5, ACTA2, ADAMTS2, AEBP1, B3GALT6, B4GALT7, C1R, C1S, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FBN1, FBN2, FKBP14, FLNA, MAT2A, MED12, MYH11, MYLK, NOTCH1, P4HA1, PLOD1, PRDM5, PRKG1, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469 |
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Ehlers-Danlos, Síndrome |
Painel por Sequenciamento de Próxima Geração |
ACE, ACTA2, ADAMTS2, AEBP1, ALDH18A1, ARFGEF2, ASPN, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BMP1, C1R, C1S, CALCR, CBS, CHST14, CILP, COL10A1, COL11A1, COL11A2, COL12A1, COL17A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COL8A2, COL9A1, COL9A2, COL9A3, DSE, EFEMP2, ELN, EMX2, FBLN5, FBN1, FBN2, FCN3, FKBP14, FLCN, FLNA, GORAB, GP6, GZF1, HRAS, IFITM5, ITGA2, ITGB4, KIF22, LAMA3, LAMB3, LAMC2, LOXL3, LRP2, LRP5, LTBP4, MAT2A, MED12, MFAP5, MMP1, MYH11, MYLK, NOTCH1, P3H1, P4HA1, PDLIM4, PIK3R1, PLOD1, PPIB, PPP1CB, PRDM5, PRKG1, PYCR1, RIN2, SHH, SIX3, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, SMAD6, SMS, TGFB2, TGFB3, TGFBR1, TGFBR2, THBS2, TMEM38B, TNXB, VCAN, VDR, WNT1, ZNF469 |
