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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
Myoadenylate deaminase deficiency (AMPD1 gene hot spot mutation - p.Gln12*)
AMPD1
Adenosine monophosphate deaminase deficiency
Centrum Medische Genetica - UZ Brussel VUB
Butyrylcholinesterase deficiency - Pharmacogenetics
BCHE
Butyrylcholinesterase deficiency
Centrum Medische Genetica - UZ Gent
Autoimmune lymphoproliferative syndrome, type V
CTLA4
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Centrum Menselijke Erfelijkheid - KUL
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