Loeys-Dietz-Syndrom

Organsysteme
- Gefäß-/ Bindegewebs- und Skeletterkrankungen
Diagnostik
- Marfan inkl. Loeys-Dietz Syndrom Panel
- Hypermobilität Panel
Gene
- ADAMTSL4 ,
- COL1A1 ,
- COL1A2 ,
- COL5A1 ,
- COL5A2 ,
- FBN1 ,
- FBN2 ,
- FKBP14 ,
- PLOD1 ,
- SLC2A10 ,
- SMAD2 ,
- SMAD3 ,
- TGFB2 ,
- TGFB3 ,
- TGFBR1 ,
- TGFBR2 ,
- TNXB