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Craniosynostosis syndrome (hot spot mutation - p.Pro252Arg)
FGFR1
Pfeiffer syndrome type 1
Centrum Medische Genetica - UZ Antwerpen
Kallmann syndrome / Hypogonadotropic Hypogonadism (FGFR1 gene)
FGFR1
Kallmann syndrome
,
Normosmic congenital hypogonadotropic hypogonadism
Centre de Génétique Humaine - CHU Sart-Tilman
SLCO1B1*1b,*5,*15 genotyping (transport protein) - Pharmacogenetics
SLCO1B1
Statin toxicity
Centre de Génétique Médicale UCL
Non-cholestatic jaundice with direct bilirubin (3 genes)
ABCC2
,
SLCO1B1
,
SLCO1B3
Non-cholestatic jaundice with direct bilirubin (3 genes) - UCL
Rotor syndrome
,
Dubin-Johnson syndrome
Centre de Génétique Médicale UCL
Glycogen storage disease type 0
GYS2
Glycogen storage disease due to hepatic glycogen synthase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Arterial Tortuosity Syndrome
SLC2A10
,
EFEMP2
Arterial tortuosity syndrome
Centrum Medische Genetica - UZ Gent
Swachman-Bodian-Diamond syndrome
SBDS
Shwachman-Diamond syndrome
Centrum Menselijke Erfelijkheid - KUL
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