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Waardenburg Syndrome types I and III
PAX3
Waardenburg syndrome type 1
,
Waardenburg syndrome type 3
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Waardenburg syndrome (gene panel)
EDN3
,
EDNRB
,
MITF
,
PAX3
,
SNAI2
,
SOX10
Waardenburg syndrome (6 genes) - UZA
Waardenburg syndrome type 1
,
Waardenburg syndrome type 2
,
Waardenburg syndrome type 3
,
Waardenburg-Shah syndrome
Centrum Medische Genetica - UZ Antwerpen
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
Familial Mediterranean Fever
MEFV
Familial Mediterranean fever
Centre de Génétique Humaine - CHU Sart-Tilman
Neurodevelopmental disorders gene panel
Neurodevelopmental disorders: developmental delay, intellectual disability, autistic disorders (1162 genes) - VUB
Infantile neuroaxonal dystrophy
Centrum Medische Genetica - UZ Brussel VUB
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