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Fanconi anemia (gene panel)
Fanconi anemia - UGent
Fanconi anemia
Centrum Medische Genetica - UZ Gent
Fanconi anemia (FANCC) (hot spot mutation - c.456+4A>T)
FANCC
Fanconi anemia
Centrum Medische Genetica - UZ Antwerpen
Chronic granulomatous disease, X-linked
CYBB
Chronic granulomatous disease
,
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Centrum Menselijke Erfelijkheid - KUL
Immunodeficiency - Activated PI3K-delta syndrome
PIK3CD
Activated PI3K-delta syndrome
Centrum Menselijke Erfelijkheid - KUL
Achondrogenesis / Kniest dysplasia / Hypochondrogenesis
COL2A1
Achondrogenesis type 2
,
Hypochondrogenesis
,
Kniest dysplasia
,
Multiple epiphyseal dysplasia, Beighton type
,
Spondyloepiphyseal dysplasia congenita
,
Stickler syndrome type 1
Centrum Medische Genetica - UZ Gent
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