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Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion
ATN1
Dentatorubral pallidoluysian atrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion
ATN1
Dentatorubral pallidoluysian atrophy
Centrum Medische Genetica - UZ Antwerpen
Dentatorubral pallidoluysian atrophy - ATN1 gene CAG repeat expansion
ATN1
Dentatorubral pallidoluysian atrophy
Centrum Medische Genetica - UZ Brussel VUB
Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion
ATXN8
,
TBP
,
ATN1
Spinocerebellar ataxia (type 8, 17 + ATN1) (5 genes) - VUB
Spinocerebellar ataxia type 8
,
Spinocerebellar ataxia type 17
,
Dentatorubral pallidoluysian atrophy
Centrum Medische Genetica - UZ Brussel VUB
Ellis-van Creveld syndrome (2 genes)
EVC
,
EVC2
Ellis-van Creveld (2 genes) - IPG
Ellis Van Creveld syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Antithrombine III deficiency (thrombophilia) (SERPINC1 gene)
SERPINC1
Hereditary thrombophilia due to congenital antithrombin deficiency
Centrum Medische Genetica - UZ Brussel VUB
MODY : Maturity onset Diabete of the Young (gene panel)
ABCC8
,
GCK
,
HNF1A
,
HNF4A
,
HNF1B
,
INS
,
KCNJ11
MODY - Maturity onset Diabete of the Young (21 genes) - IPG
MODY
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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