Connective tissue disorder gene panel
ABCC6, ACTA2, ACVR1, ADAMTS1, ADAMTS2, ADAMTSL2, AGPS, ALDH18A1, ALPL, ARSE, ATP6VA2, ATP7A, B3GALT6, B4GALT7, BMP1, CA2, CANT1, CBS, CHST14, CLCN7, COL1A1, COL11A1, COL11A2, COL1A2, COL2A1, COL3A1, COL4A3, COL4A4, COL4A5, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COMP, CRTAP, DDR2, DSE, DYNC2H1, EBP, EFEMP2, ELN, EVC, EVC2, FBLN5, FBN1, FBN2, FGFR1, FGFR3, FKBP1, FKBP14, FLCN, FLNA, FLNB, GDF5, GNPAT, HSPG2, IFITM5, IFT122, IFT43, IFT80, IHH, LBR, LIFR, LRP5, LTBP2, LTBP4, MYH11, MYLK, NEK1, NOTCH1, NPR2, NSDHL, OCRL, OSTM1, P3H1, PAPSS2, PEX7, PIEZO2, PKD2, PLEKHM1, PLOD1, PLOD2, PLOD3, PPIB, PRDM5, PTH1R, PYCR1, RIN2, RMRP, RUNX2, SERPINF1, SERPINH1, SKI, SLC26A2, SLC2A1, SLC35D1, SLC39A13, SMAD3, SMAD4, SMARCAL1, SNX1, SOX9, SP7, SPARC, TCIRG1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM38B, TNFRSF11A, TNFSF11, TNXB, TRAPPC2, TRIP11, TRPS1, TRPV4, TTC21B, WDR35, WISP3, WNT1, ZNF469
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