Spondylometaphyseal Dysplasia and Spondyloepiphyseal Dysplasia, NGS
Diagnosis of skeletal dysplasias via genetic analysis; targeted management and genetic counseling.
Genelist (66): ACAN, ACP5, ATP7A, B3GALT6, B3GAT3, BGN, BPNT2, CANT1, CCN6, CFAP410, CHST3, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDR2, DYM, EIF2AK3, FGFR3, FLNB, FN1, GALNS, GPX4, HSPG2, IDUA, IHH, INPPL1, KIF22, LIFR, LONP1, MATN3, MBTPS1, MIR140, MMP13, MMP9, NANS, NEK1, NKX3-2, NMNAT1, PAM16, PAPSS2, PCYT1A, PISD, PLCB3, POP1, PRKG2, PTH1R, RAB33B, RMRP, RNU4ATAC, RSPRY1, RUNX2, SBDS, SGMS2, SLC26A2, SLC39A13, SMARCAL1, TONSL, TRAPPC2, TRPV4, UFSP2, XYLT1
Featured Review
Diagnosis of skeletal dysplasias via genetic analysis; targeted management and genetic counseling.
Genelist (66): ACAN, ACP5, ATP7A, B3GALT6, B3GAT3, BGN, BPNT2, CANT1, CCN6, CFAP410, CHST3, COL10A1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, DDR2, DYM, EIF2AK3, FGFR3, FLNB, FN1, GALNS, GPX4, HSPG2, IDUA, IHH, INPPL1, KIF22, LIFR, LONP1, MATN3, MBTPS1, MIR140, MMP13, MMP9, NANS, NEK1, NKX3-2, NMNAT1, PAM16, PAPSS2, PCYT1A, PISD, PLCB3, POP1, PRKG2, PTH1R, RAB33B, RMRP, RNU4ATAC, RSPRY1, RUNX2, SBDS, SGMS2, SLC26A2, SLC39A13, SMARCAL1, TONSL, TRAPPC2, TRPV4, UFSP2, XYLT1