Micromelic Dysplasia, NGS


Diagnose micromelic dysplasias genetically; prenatal diagnosis and genetic counseling.
Genelist (31): ADAMTS10, ADAMTS17, ADAMTSL2, BMPR1B, DVL1, DVL3, EXT1, FBN1, FGFR3, FZD2, GDF5, GNAS, IFT122, IFT140, IHH, INPPL1, LIFR, LTBP2, NPR2, NXN, PRKAR1A, ROR2, SHOX, SLC35D1, SMAD4, SOX9, TRIP11, TRPS1, WDR19, WDR35, WNT5A