539 | Displasia Esquelética |
Displasia Esquelética
Condição Médica | Displasia Esquelética |
Cód. Genetika | PDE |
Sinonímias | |
Observações | - Obrigatório nome completo e data de nascimento do paciente. |
Estratégia de Análise | Painel por Sequenciamento de Próxima Geração |
Genes Relacionados | MAFB, SALL4, CEP290, FGFR3, COL2A1, ARHGAP31, PITX1, SLC26A2, NIPBL, PTPN11, SH3PXD2B, ANO5, CHST14, DYNC2H1, FAM20C, FGFR2, FKBP10, FLNB, KIF7, FBN1, FLNA, LMNA, MKS1, SHOX, GREM1, FGFR1, GNAS, CC2D2A, EVC, EVC2, IFT122, IFT140, IFT80, NEK1, RPGRIP1L, CDKN1C, DDR2, EBP, AGPS, GLI3, PRKAR1A, NOTCH2, COL1A1, EXT1, MMP9, EXT2, ARSE, ESCO2, HSPG2, SALL1, RUNX2, CHST3, SOX9, DLL3, CDH3, COL11A1, COL11A2, COL9A1, COL9A2, LRP5, COMP, PIGV, KIF22, COL9A3, MATN3, ACAN, ACP5, ALPL, ANKH, ATP6V0A2, B3GALT6, B4GALT7, BMP2, BMPR1B, CA2, CANT1, CASR, CHSY1, CLCN5, CLCN7, COL10A1, COL1A2, CRTAP, CTSK, CUL7, DHCR24, DLX3, DMP1, DYM, EIF2AK3, ENPP1, FBLN1, FBXW4, FERMT3, FGF10, FGF23, FMN1, GALNT3, GDF5, GORAB, GPC6, HDAC4, HES7, HOXD13, HPGD, ICK, IFITM5, IHH, LEMD3, LFNG, LIFR, LMBR1, LRP4, MESP2, MGP, MMP13, MMP2, MYCN, NKX3-2, NOG, NPR2, OBSL1, OSTM1, P3H1, PAPSS2, PCNT, PHEX, PLOD2, PPIB, PTH1R, PTHLH, PYCR1, RASGRP2, RECQL4, ROR2, SERPINF1, SERPINH1, SHH, SLC34A3, SLC35D1, SLC39A13, SMARCAL1, SOST, SP7, SULF1, TBCE, TB |
Especialidades | Pediatria, Ortopedia e Traumatologia, Ortopedia e Traumatologia Pediátrica |
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| Painel por Sequenciamento de Próxima Geração | MAFB, SALL4, CEP290, FGFR3, COL2A1, ARHGAP31, PITX1, SLC26A2, NIPBL, PTPN11, SH3PXD2B, ANO5, CHST14, DYNC2H1, FAM20C, FGFR2, FKBP10, FLNB, KIF7, FBN1, FLNA, LMNA, MKS1, SHOX, GREM1, FGFR1, GNAS, CC2D2A, EVC, EVC2, IFT122, IFT140, IFT80, NEK1, RPGRIP1L, CDKN1C, DDR2, EBP, AGPS, GLI3, PRKAR1A, NOTCH2, COL1A1, EXT1, MMP9, EXT2, ARSE, ESCO2, HSPG2, SALL1, RUNX2, CHST3, SOX9, DLL3, CDH3, COL11A1, COL11A2, COL9A1, COL9A2, LRP5, COMP, PIGV, KIF22, COL9A3, MATN3, ACAN, ACP5, ALPL, ANKH, ATP6V0A2, B3GALT6, B4GALT7, BMP2, BMPR1B, CA2, CANT1, CASR, CHSY1, CLCN5, CLCN7, COL10A1, COL1A2, CRTAP, CTSK, CUL7, DHCR24, DLX3, DMP1, DYM, EIF2AK3, ENPP1, FBLN1, FBXW4, FERMT3, FGF10, FGF23, FMN1, GALNT3, GDF5, GORAB, GPC6, HDAC4, HES7, HOXD13, HPGD, ICK, IFITM5, IHH, LEMD3, LFNG, LIFR, LMBR1, LRP4, MESP2, MGP, MMP13, MMP2, MYCN, NKX3-2, NOG, NPR2, OBSL1, OSTM1, P3H1, PAPSS2, PCNT, PHEX, PLOD2, PPIB, PTH1R, PTHLH, PYCR1, RASGRP2, RECQL4, ROR2, SERPINF1, SERPINH1, SHH, SLC34A3, SLC35D1, SLC39A13, SMARCAL1, SOST, SP7, SULF1, TBCE, TB | PDE | Pediatria, Ortopedia e Traumatologia, Ortopedia e Traumatologia Pediátrica |