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Ellis-van Creveld syndrome (2 genes)
EVC
,
EVC2
Ellis-van Creveld (2 genes) - IPG
Ellis Van Creveld syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Rett syndrome
MECP2
Rett syndrome
,
Atypical Rett syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Venous malformation (3 genes)
TEK
,
GLMN
Venous malformation (3 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Blue rubber bleb nevus
,
Mucocutaneous venous malformations
,
Glomuvenous malformation
,
Bannayan-Riley-Ruvalcaba syndrome
,
Cowden syndrome
,
Juvenile polyposis of infancy
,
Proteus syndrome
,
Proteus-like syndrome
,
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Centre de Génétique Médicale UCL
Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (gene panel)
Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG
Alport syndrome
,
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
,
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
,
Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Nephrotic syndrome - steroid resistant
COQ8B
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Centre de Génétique Humaine - CHU Sart-Tilman
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