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Fanconi anemia (gene panel)
Fanconi anemia - UGent
Fanconi anemia
Centrum Medische Genetica - UZ Gent
Fanconi anemia (FANCC) (hot spot mutation - c.456+4A>T)
FANCC
Fanconi anemia
Centrum Medische Genetica - UZ Antwerpen
Hypoparathyroidism sensorineural deafness and renal disease
GATA3
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Long chain 3-hydroxyl-CoA dehydrogenase deficiency (hot spot mutation - p.Glu510Gln)
HADHA
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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