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Laboratory
Polyarteritis nodosa, childhood-onset / Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
ADA2
Vasculitis due to ADA2 deficiency
,
Diamond-Blackfan anemia
,
Sneddon syndrome
Centrum Menselijke Erfelijkheid - KUL
Microspherophakia / Megalocornea / primary congenital Glaucoma / Weill-Marchesani syndrome 3 recessive type
LTBP2
Weill-Marchesani syndrome
,
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Centrum Medische Genetica - UZ Gent
Weill-Marchesani syndrome
Weill-Marchesani - UGent
Weill-Marchesani syndrome
Centrum Medische Genetica - UZ Gent
Cerebral cavernous malformation (gene panel)
KRIT1
,
CCM2
,
PDCD10
Cerebral cavernous malformation (3 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Familial cerebral cavernous malformation
Centre de Génétique Médicale UCL
Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum - UGent
Pseudoxanthoma elasticum
Centrum Medische Genetica - UZ Gent
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