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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
Ectopia lentis
LTBP2
,
ADAMTSL4
,
FBN1
Isolated ectopia lentis
Centrum Medische Genetica - UZ Gent
Marfan Syndrome
FBN1
Marfan syndrome type 1
,
Neonatal Marfan syndrome
Centrum Medische Genetica - UZ Gent
Obesity (gene panel)
ADCY3
,
BDNF
,
LEP
,
LEPR
,
MC3R
,
MC4R
,
NR0B2
,
NTRK2
,
PCSK1
,
POMC
,
SIM1
,
UCP3
Obesitas (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Obesitas, early onset (gene panel)
MC4R
,
MC3R
,
LEP
,
LEPR
,
PCSK1
,
POMC
,
SIM1
,
NTRK2
Obesitas, early onset (8 genes) - VUB
Centrum Medische Genetica - UZ Brussel VUB
Glycogen storage disease type 0
GYS2
Glycogen storage disease due to hepatic glycogen synthase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
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