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Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene)
SCN4A
Hyperkalemic periodic paralysis
,
Hypokalemic periodic paralysis
Centrum Medische Genetica - UZ Brussel VUB
Craniosynostosis syndromes (Apert, Crouzon)
FGFR2
Crouzon syndrome
,
Apert syndrome
Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Apert syndrome (hot spot mutations - exon 7)
FGFR2
Apert syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Vitelliform Macular Dystrophy
BEST1
,
PRPH2
,
IMPG1
,
IMPG2
Best vitelliform macular dystrophy
,
Adult-onset foveomacular vitelliform dystrophy
Centrum Medische Genetica - UZ Gent
Adams-Oliver syndrome (gene panel)
ARHGAP31
,
DOCK6
,
RBPJ
,
NOTCH1
,
DLL4
,
EOGT
Adams-Oliver (6 genes) - UZA
Adams-Oliver syndrome
Centrum Medische Genetica - UZ Antwerpen
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