Marfan syndrome, NGS
Genetic diagnosis of Marfan syndrome; clinical management and surveillance strategies.
Genelist (55): ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTSL2, ADAMTSL4, AEBP1, B3GAT3, BGN, CBS, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, DLG4, EFEMP2, ELN, FBN1, FBN2, FLCN, FLNA, FMR1, FOXE3, LOX, LTBP2, LTBP3, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, UPF3B, VCAN, ZDHHC9
Featured Review
Genetic diagnosis of Marfan syndrome; clinical management and surveillance strategies.
Genelist (55): ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTSL2, ADAMTSL4, AEBP1, B3GAT3, BGN, CBS, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, DLG4, EFEMP2, ELN, FBN1, FBN2, FLCN, FLNA, FMR1, FOXE3, LOX, LTBP2, LTBP3, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, UPF3B, VCAN, ZDHHC9