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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
AIRE
Autoimmune polyendocrinopathy type 1
Centrum Menselijke Erfelijkheid - KUL
Polyarteritis nodosa, childhood-onset / Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome
ADA2
Vasculitis due to ADA2 deficiency
,
Diamond-Blackfan anemia
,
Sneddon syndrome
Centrum Menselijke Erfelijkheid - KUL
CYP2D6 genotyping (full gene sequencing + pseudogene and CNV analysis)- drug metabolism - Pharmacogenetics
CYP2D6
Codeine toxicity
,
Resistance to tamoxifene
,
Antidepressant or antipsychotic toxicity or dose selection
Centre de Génétique Médicale UCL
X-linked Opitz G/BBB syndrome
MID1
X-linked Opitz G/BBB syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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