NGS Limb Malformations
Extremitätenfehlbildung Gen-Panel (46 Gene)
COL10A1, COL9A1, COMP, DHODH, DLL3, ESCO2, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GDF3, GDF5, GDF6, GH1, GHR, GHRHR, GNAS, GPC6, GPX4, HES7, HOXD13, IGF1, IGF1R, IHH, IMPAD1, LBR, LFNG, MESP2, MMP13, NSDHL, PTH1R, RECQL4, ROR2, RUNX2, SHH, SHOX, SLC35D1, SRCAP, TBX15, TBX5, TBX6, TRPS1, TRPV4 und WNT3.