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Sturge-Weber syndrome (gene panel)
Sturge-Weber syndrome (65 genes) - KUL
Sturge-Weber syndrome
Centrum Menselijke Erfelijkheid - KUL
Congenital hemangioma (2 genes)
GNAQ
,
GNA11
Familial multiple nevi flammei
,
Sturge-Weber syndrome
,
Uveal melanoma
Centrum Menselijke Erfelijkheid - KUL
Multiple osteochondromas (2 genes)
EXT1
,
EXT2
Multiple osteochondromas (2 genes) - UZA
Multiple osteochondromas
Centrum Medische Genetica - UZ Antwerpen
Porencephaly / Hemorrhagic stroke / Cerebral small vessel disease / Idiopathic cerebral white matter lesions / HANAC / Isolated retinal arteriolar tortuosity
COL4A1
,
COL4A2
Familial porencephaly
,
HANAC syndrome
,
Retinal arterial tortuosity
Centrum Medische Genetica - UZ Gent
Acrocapitofemoral dysplasia / Brachydactyly, type A1
IHH
Acrocapitofemoral dysplasia
,
Brachydactyly type A1
Centrum Medische Genetica - UZ Gent
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