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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
Canavan disease (hot spot mutation - p.Glu285Ala, p.Tyr231*)
ASPA
Mild Canavan disease
,
Severe Canavan disease
Centrum Medische Genetica - UZ Antwerpen
Feingold syndrome
MYCN
Feingold syndrome type 1
Centrum Medische Genetica - UZ Gent
Synpolydactyly / Brachydactyly
HOXD13
Brachydactyly-syndactyly, Zhao type
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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