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Autoimmune disease, multisystem, infantile-onset (ADMIO) / Hyper-IgE recurrent infection syndrome
STAT3
STAT3-related early-onset multisystem autoimmune disease
,
Autosomal dominant hyper-IgE syndrome
Centrum Menselijke Erfelijkheid - KUL
Myhre syndrome (hot spot mutation - p.I500)
SMAD4
Myhre syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
MODY : Maturity onset Diabete of the Young (gene panel)
ABCC8
,
GCK
,
HNF1A
,
HNF4A
,
HNF1B
,
INS
,
KCNJ11
MODY - Maturity onset Diabete of the Young (21 genes) - IPG
MODY
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (gene panel)
Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (genepanel) - UZA
MODY
Centrum Medische Genetica - UZ Antwerpen
Cutis Laxa / Geroderma osteodysplasticum (gene panel)
Cutis Laxa / Geroderma osteodysplasticum - UGent
Autosomal dominant cutis laxa
,
Geroderma osteodysplastica
Centrum Medische Genetica - UZ Gent
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