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Aarskog-Scott syndrome
FGD1
Aarskog-Scott syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Homocystinuria (hot spot mutation - c.677C>T)
MTHFR
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Homocystinuria (hot spot mutation - c.1298A>C)
MTHFR
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Coagulopathies (2 genes)
ITGA2B
,
ITGB3
Autosomal dominant macrothrombocytopenia
,
Glanzmann thrombasthenia
,
Fetal and neonatal alloimmune thrombocytopenia
Centre de Génétique Médicale UCL
Immune deficiency with hyperIgM, type 3
CD40
Hyper-IgM syndrome type 3
Centrum Menselijke Erfelijkheid - KUL
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