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Laboratory
Coagulopathies (2 genes)
ITGA2B
,
ITGB3
Autosomal dominant macrothrombocytopenia
,
Glanzmann thrombasthenia
,
Fetal and neonatal alloimmune thrombocytopenia
Centre de Génétique Médicale UCL
Silver-Russell syndrome
11p15.5
,
7p12.1
,
7q32.2
Silver-Russell syndrome
,
Silver-Russell syndrome due to an imprinting defect of 11p15
,
Silver-Russell syndrome due to 11p15 microduplication
Centre de Génétique Médicale UCL
Acrocapitofemoral dysplasia / Brachydactyly, type A1
IHH
Acrocapitofemoral dysplasia
,
Brachydactyly type A1
Centrum Medische Genetica - UZ Gent
Enzymatic dosage MPS1/Hurler syndrome
Hurler-Scheie syndrome
,
Hurler syndrome
Centrum Medische Genetica - UZ Brussel VUB
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