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Laboratory
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)
MT-ND1
,
MT-ND4
,
MT-ND6
Leber hereditary optic neuropathy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)
MT-ND1
,
MT-ND4
,
MT-ND6
LHON (3 genes) - VUB
Leber hereditary optic neuropathy
Centrum Medische Genetica - UZ Brussel VUB
Adams-Oliver syndrome (gene panel)
ARHGAP31
,
DOCK6
,
RBPJ
,
NOTCH1
,
DLL4
,
EOGT
Adams-Oliver (6 genes) - UZA
Adams-Oliver syndrome
Centrum Medische Genetica - UZ Antwerpen
Familial Exudative Vitreoretinopathy, autosomal dominant
FZD4
,
TSPAN12
,
LRP5
,
NDP
Exudative Vitreoretinopathy - UGent
Familial exudative vitreoretinopathy
Centrum Medische Genetica - UZ Gent
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