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Cardiofaciocutaneous syndrome (5 genes)
HRAS
,
KRAS
,
BRAF
,
MAP2K2
,
MAP2K1
Cardiofaciocutaneous syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Vascular malformations (somatic)
AKT1
,
AKT2
,
AKT3
,
ALK
,
BRAF
,
GNA11
,
GNA14
,
GNAQ
,
HRAS
,
IDH1
,
IDH2
,
KRAS
,
NRAS
,
PIK3CA
,
PIK3R1
,
PIK3R2
,
PTEN
,
TEK
,
MAP3K3
,
MAP2K1
Vascular malformations (somatic) (19 genes) - UCL
Capillary malformation-arteriovenous malformation
,
CLOVES syndrome
,
Maffucci syndrome
,
Proteus syndrome
Centre de Génétique Médicale UCL
Septo-optic dysplasia
HESX1
Septo-optic dysplasia spectrum
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Deficiency of Vitamin K-Dependent Clotting Factors
VKORC1
,
GGCX
Hereditary combined deficiency of vitamin K-dependent clotting factors
Centrum Medische Genetica - UZ Gent
Pseudoxanthoma Elasticum with clotting deficiency
GGCX
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
,
Hereditary combined deficiency of vitamin K-dependent clotting factors
Centrum Medische Genetica - UZ Gent
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