Makrozephalie
Makrozephalie Gen-Panel (56 Gene)
AKT3, AMER1, ASPA, BRAF, BRWD3, CBL, CCDC22, CDKN1C, CHD8, CUL4B, DIS3L2, DNMT3A, EZH2, FOXP1, GCDH, GFAP, GLI3, GNAQ, GPC3, GRIA3, HEPACAM, HRAS, HUWE1, KIAA0196, KIF7, KRAS, MAP2K1, MAP2K2, MED12, MLC1, NDUFA1, NFIX, NRAS, NSD1, OFD1, PIGA, PIGN, PIGV, PIK3R2, PTCH1, PTCH2, PTEN, PTPN11, RAB39B, RAF1, RNF135, ROR2, SETD2, SHANK3, SHOC2, SOS1, SUFU, TMCO1, UPF3B, WNT5A und ZDHHC9