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Doenças Craniofaciais e Displasias Esqueléticas |
Painel por Sequenciamento de Próxima Geração |
ACP5, ADAMTS18, ADAMTSL2, ALPL, ALX1, ALX3, ALX4, ANO5, BMP1, CANT1, CHST14, CHST3, COL10A1, COL11A1, COL11A2, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CRTAP, CTSK, DDR2, DLL3, DYM, DYNC2H1, EDN1, EFNB1, EIF2AK3, EIF4A3, ELN, ERF, EVC, EVC2, EXT1, FBLN5, FBN1, FGF8, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FKBP14, FLNA, FLNB, GALNS, GDF5, GDF6, GJA1, GLB1, GLI2, GLI3, GNAI3, GNAS, GRHL3, HES7, HUWE1, IFITM5, IFT80, IL11RA, IRF6, KIF22, LEMD3, LEPRE1, LFNG, LIFR, LMNA, LRP5, MATN3, MESP2, MMP13, MMP9, MSX1, MSX2, NF2, NKX3-2, NOG, NPR2, OFD1, PAPSS2, PLCB4, PLOD1, PLOD2, PLS3, POLR1C, POLR1D, POR, PPIB, PRKAR1A, PTCH1, PTH1R, PVRL1, RAB23, RECQL4, RMRP, ROR2, RUNX2, SALL1, SATB2, SBDS, SERPINF1, SERPINH1, SH3BP2, SHH, SHOX, SIX3, SLC26A2, SMARCAL1, SOST, SOX9, SP7, SPARC, TBX1, TBX22, TBX6, TCF12, TCOF1, TFAP2A, TGFBR1, TGFBR2, TGIF1, TMEM38B, TNFRSF11A, TP63, TRAPPC2, TRIP11, TRPS1, TRPV4, TSHZ1, TWIST1, WNT1, WNT3, ZIC1, ZIC2 |
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Rett/Angelman, Síndromes |
Painel por Sequenciamento de Próxima Geração |
ARX, ATRX, CDKL5, CNTNAP2, DYRK1A, EHMT1, FOXG1, IQSEC2, MBD5, MECP2, MEF2C, NRXN1, PCDH19, PNKP, SATB2, SHANK3, SLC2A1, SLC9A6, STXBP1, TCF4, UBE3A, ZEB2 |
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Autismo |
Painel por Sequenciamento de Próxima Geração |
ANKRD11, AP1S2, ARX, ATRX, AUTS2, AVPR1A, BDNF, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CNTNAP5, CREBBP, DHCR7, DLGAP2, DMD, DOCK4, DPP10, DPP6, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, GABRG1, GNA14, GRIN2B, GRPR, HOXA1, HPRT1, IMMP2L, KATNAL2, KCTD13, KDM5C, KIRREL3, KLHL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MET, MID1, NEGR1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PCDH9, PDE10A, PHF6, PIP5K1B, PNKP, PON3, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAI1, RBFOX1, RELN, RPL10, SATB2, SCN1A, SCN2A, SHANK2, SHANK3, SLC6A4, SLC9A6, SLC9A9, SMC1A, SMG6, SNRPN, SOX5, SPAST, ST7, STK3, TCF4, TSC1, TSC2, UBE3A, VPS13B, ZEB2, ZNF507, ZNF804A, ZNHIT6 |
