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Fanconi anemia (FANCC) (hot spot mutation - c.456+4A>T)
FANCC
Fanconi anemia
Centrum Medische Genetica - UZ Antwerpen
Jewish mutation panel (Tay Sachs, Fanconi, Dysautonomia, Canavan) (4 genes; 7 hot spot mutations)
ASPA
,
ELP1
,
HEXA
,
FANCC
Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA
Centrum Medische Genetica - UZ Antwerpen
Waardenburg syndrome (gene panel)
EDN3
,
EDNRB
,
MITF
,
PAX3
,
SNAI2
,
SOX10
Waardenburg syndrome (6 genes) - UZA
Waardenburg syndrome type 1
,
Waardenburg syndrome type 2
,
Waardenburg syndrome type 3
,
Waardenburg-Shah syndrome
Centrum Medische Genetica - UZ Antwerpen
Adams-Oliver syndrome (gene panel)
ARHGAP31
,
DOCK6
,
RBPJ
,
NOTCH1
,
DLL4
,
EOGT
Adams-Oliver (6 genes) - UZA
Adams-Oliver syndrome
Centrum Medische Genetica - UZ Antwerpen
Obesity (gene panel)
ADCY3
,
BDNF
,
LEP
,
LEPR
,
MC3R
,
MC4R
,
NR0B2
,
NTRK2
,
PCSK1
,
POMC
,
SIM1
,
UCP3
Obesitas (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
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