Instruções

Solicita-se, informação clínica do paciente. Enviar cópia da historia clínica familiar (se aplicável) e enviar também consentimento e questionário específico. ABCC9, ACAN, ACP5, ACVR1, ADAMTS10, ADAMTSL2, AGA, AGPS, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARSB, ARSE, ATP6V0A2, B3GALT6, B3GAT3, B4GALT7, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, C5orf42, CA2, CANT1, CASR , CC2D2A, CCDC176, CCDC8, CDH3, CDKN1C, CEP120, CEP290, CHST14, CHST3, CHSY1, CLCN5, CLCN7, COG1, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COLEC11, COMP, CREBBP, CRTAP, CSPP1, CTSA, CTSK, CUL7, DDR2, DHCR24, DHODH, DLL3, DLX3, DLX5, DMP1, DYM, DYNC2H1, EBP, EFNB1, EFTUD2, EIF2AK3, ENPP1, EP300, ERF, ESCO2, EVC, EVC2, EXT2, FAM111A, FAM20C, FAM58A, FAT4, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGF10, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, FMN1, FUCA1, GALNS, GALNT3, GDF5, GDF6, GIF, GJA1, GLB1, GLI3, GNAI3, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GREM1, GSC, GUSB, HDAC4, HES7, HGSNAT, HMGA2, HOXA11, HOXA13, HOXD10, HOXD13, HOXD4, HPGD, HSPA9, HSPG2, ICK, IDH1, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT80, IHH, IKBKG, IL1RN, IMPAD1, IRX5, KAT6B, KIAA0196, KIF22, KIF7, LBR, LEMD3, LEPRE1, LFNG, LIFR, LMBR1, LMNA, LMX1B, LPIN2 , LRP4, LRP5, MAFB, MAN2B1, MASP1, MATN3, MESP2, MGP, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MSX2, MTAP, MYCN, NAGLU, NEK1, NEU1, NFIX, NIN, NIPBL, NKX3-2, NLRP3, NOG, NOTCH2, NPPC, NPR2, NSD1, NSDHL, OBSL1, OFD1, ORC1, OSTM1, PAPSS2, PCNT, PCYT1A, PDE4D, PEX7, PHEX, PIGV, PITX1, PITX3, PLCB4, PLEKHM1, PLOD2, POC1A, POLR1C, POLR1D, POP1, POR, PPIB, PRKAR1A, PTDSS1, PTH1R, PTHLH, PTPN11, PYCR1, RAB23, RASGRP2, RBM8A, RECQL4, ROR2, RPGRIP1L, RUNX2, SALL1, SALL4, SBDS, SEC23A, SERPINH1, SF3B4, SGSH, SH3BP2, SH3PXD2B, SHH, SIX2, SKI, SLC17A5, SLC26A2, SLC34A3, SLC35D1, SLC39A13, SMAD4, SMARCAL1, SNX10, SOST, SOX9, SP7, SRCAP, SULF1, SUMF1, TBCE, TBX15, TBX3, TBX4, TBX5, TBXAS1, TCF12, TCIRG1, TCOF1, TCTN3, TGFB1, TGFBR1, TGFBR2, THPO, TMCO1, TMEM165, TMEM185A, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, TYROBP, WDR19, WDR34, WDR35, WDR60, WISP3, WNT3, WNT5A, WNT7A, XYLT1, ZMPSTE24