Neurologia e neuropediatria

Displasias esqueléticas

Lista de Genes
ABCC9, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS2, ADAMTSL2, AEBP1, AFF4, AGA, AGPS, AIFM1, AKT1, ALG12, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARCN1, ARHGAP31, ARID1A, ARID1B, ARSB, ARSL, ASXL1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, ATR
B3GALT6, B3GAT3, B3GLCT, B4GALT7, BANF1, BBS10, BGN, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, BPNT2
C2CD3, CA2, CANT1, CASR, CC2D2A, CCDC8, CCN6, CCNQ, CDC45, CDC6, CDH3, CDKN1C, CDT1, CENPE, CENPJ, CEP120, CEP152, CEP290, CFAP410, CHD7, CHST14, CHST3, CHSY1, CILK1, CLCN5, CLCN7, COG1, COG4, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL27A1, COL2A1, COL5A2, COL9A1, COL9A2, COL9A3, COLEC11, COMP, CREB3L1, CREBBP, CRIPT, CRTAP, CSGALNACT1, CSPP1, CTSA, CTSC, CTSK, CUL7, CYP26B1, CYP27B1, CYP2R1
DDR2, DDRGK1, DHCR24, DHODH, DLL3, DLX3, DLX5, DLX6, DMP1, DNA2, DNAJC21, DNMT3A, DOCK6, DPM1, DSPP, DVL1, DVL2, DVL3, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B
EBP, EED, EFL1, EFNB1, EFTUD2, EIF2AK3, ENPP1, EOGT, EP300, ERF, ESCO2, EVC, EVC2, EXOC6B, EXT1, EXT2, EXTL3, EZH2
FAM111A, FAM20C, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGD1, FGF10, FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FMN1, FN1, FREM1, FUCA1, FZD2
GALNS, GALNT3, GDF3, GDF5, GDF6, GHR, GHSR, GJA1, GLB1, GLI3, GMNN, GNAI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC3, GPC6, GPX4, GREM1, GSC, GUSB, GZF1
HAAO, HDAC4, HDAC8, HES7, HGSNAT, HNF4A, HNRNPK, HOXA11, HOXA13, HOXD13, HPGD, HSPA9, HSPG2, HYLS1
IARS2, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IGF1, IGF1R, IHH, IL11RA, INPPL1, INTU
KAT6B, KIAA0586, KIF22, KIF7, KMT2D, KYNU
LARP7, LBR, LEMD3, LFNG, LIFR, LMBR1, LMNA, LMX1B, LONP1, LPIN2, LRP4, LRP5, LTBP3
MAFB, MAN2B1, MAP2K1, MAP3K7, MASP1, MATN3, MBTPS2, MECOM, MED12, MEGF8, MEOX1, MESP2, MGP, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MSX2, MTAP, MYCN, MYH3, MYO18B
NAGLU, NANS, NBAS, NEK1, NEK9, NEU1, NF1, NFIX, NIN, NIPBL, NKX3-2, NLRP3, NOG, NOTCH2, NPPC, NPR2, NSD1, NSDHL, NSMCE2, NXN
OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1
P3H1, P4HB, PAM16, PAPSS2, PAX3, PCGF2, PCNT, PCYT1A, PDE3A, PDE4D, PDGFRB, PEX5, PEX7, PHEX, PHF6, PIEZO2, PIGV, PIK3R1, PITX1, PLEKHM1, PLK4, PLOD1, PLOD2, PLS3, POC1A, POLE, POLR1A, POLR1C, POLR1D, POP1, POR, PPIB, PRKAR1A, PSAT1, PTDSS1, PTH1R, PTHLH, PTPN11, PYCR1
RAB23, RAB33B, RAB3GAP2, RAC3, RAD21, RBBP8, RBM8A, RBPJ, RECQL4, RIN2, RIPK4, RIPPLY2, ROBO3, ROR2, RPGRIP1L, RPL13, RSPRY1, RTTN, RUNX2
SALL1, SALL4, SBDS, SCARF2, SEC24D, SERPINF1, SERPINH1, SETD2, SETD5, SF3B4, SFRP4, SGMS2, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC2A10, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLX4, SMAD3, SMAD4, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SMS, SNRPB, SNX10, SOST, SOX11, SOX9, SP7, SPARC, SPECC1L, SQSTM1, SRCAP, STAG2, SULF1, SUMF1
TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN3, TENT5A, TFAP2A, TGFB1, TGFB2, TGFBR1, TGFBR2, THPO, TKT, TMEM165, TMEM216, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TONSL, TP63, TRAF3IP1, TRAIP, TRAPPC2, TREM2, TRIP11, TRMT10A, TRPS1, TRPV4, TRPV6, TTC21B, TWIST1, TYROBP
UBE2T
VAC14, VDR, VPS33A
WDR19, WDR35, WDR4, WNT1, WNT10B, WNT3, WNT5A, WNT7A
XRCC2, XRCC4, XYLT1, XYLT2
ZBTB16, ZIC1, ZMPSTE24, ZNF469, ZSWIM6
90 dias
2mL de sangue em tubo com EDTA