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Thyroid hormone receptor resistance (THRB gene)
THRB
Pituitary resistance to thyroid hormone
,
Generalized resistance to thyroid hormone
Centrum Medische Genetica - UZ Brussel VUB
Bloom syndrome
BLM
Bloom syndrome
Centrum Medische Genetica - UZ Gent
Bloom syndrome
BLM
Bloom syndrome
Centrum Menselijke Erfelijkheid - KUL
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
Beckwith-Wiedemann syndrome (11p15 methylation)
H19
,
KCNQ1OT1
,
IGF2
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
,
Beckwith-Wiedemann syndrome
Centrum Menselijke Erfelijkheid - KUL
Central Precocious Puberty (5 genes)
MKRN3
,
KISS1
,
KISS1R
,
PROKR2
,
DLK1
Central Precocious Puberty (5 genes) - ULG
Idiopathic central precocious puberty
Centre de Génétique Humaine - CHU Sart-Tilman
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