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Pituitary adenoma (4 genes)
MEN1
,
AIP
,
CDKN1B
,
PRKAR1A
Pituitary adenoma (4 genes) - ULG
Familial isolated pituitary adenoma
,
Silent pituitary adenoma
,
Null pituitary adenoma
,
Multiple endocrine neoplasia type 1
,
Multiple endocrine neoplasia type 4
,
Carney complex
Centre de Génétique Humaine - CHU Sart-Tilman
Carney syndrome
PRKAR1A
Carney complex
Centre de Génétique Médicale UCL
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
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome
TYMP
,
POLG
,
POLG2
,
RRM2B
MNGIE syndrome (4 genes) - VUB
Mitochondrial neurogastrointestinal encephalomyopathy
Centrum Medische Genetica - UZ Brussel VUB
Segawa syndrome (GCH1 gene)
GCH1
Autosomal dominant dopa-responsive dystonia
,
GTP cyclohydrolase I deficiency
Centrum Medische Genetica - UZ Brussel VUB
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