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Nijmegen Breakage Syndrome
NBN
Nijmegen breakage syndrome
Centrum Menselijke Erfelijkheid - KUL
Nijmegen breakage syndrome
NBN
Nijmegen breakage syndrome
Centrum Medische Genetica - UZ Gent
Hereditary cancer (Breast, ovary, colon) (26 genes)
BRCA1
,
BRCA2
,
BARD1
,
BRIP1
,
CDH1
,
MLH1
,
MSH2
,
MSH6
,
MEN1
,
PTEN
,
RAD50
,
RAD51D
,
STK11
,
TP53
,
CHEK2
,
MUTYH
,
PALB2
,
RAD51C
,
ATM
,
EPCAM
,
BLM
,
NBN
,
PMS2
,
XRCC2
,
ABRAXAS1
,
MRE11
Cancer (Breast, ovary, colon,…) (26 genes) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Pheochromocytoma - paraganglioma syndrome (gene panel)
SDHB
,
SDHC
,
SDHD
,
SDHA
,
MAX
,
TMEM127
,
SDHAF2
,
VHL
,
RET
,
SUCLG2
Pheochromocytoma - paraganglioma syndrome - UGent
Hereditary pheochromocytoma-paraganglioma
Centrum Medische Genetica - UZ Gent
Creatine deficiency by Guanidinoacetate methyltransferase deficiency (2 genes)
GAMT
,
GATM
Guanidinoacetate methyltransferase deficiency
,
L-Arginine:glycine amidinotransferase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
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