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Tuberous sclerosis
TSC1
,
TSC2
Tuberous sclerosis complex
Centrum Medische Genetica - UZ Gent
Tuberous sclerosis (2 genes)
TSC1
,
TSC2
Tuberous sclerosis complex
Centre de Génétique Médicale UCL
Sessile serrated polyposis syndrome (RNF43 gene)
RNF43
Serrated polyposis syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
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
Charcot-Marie-Tooth (CMT1A, GJB1)
GJB1
,
PMP22
X-linked Charcot-Marie-Tooth disease type 1
,
Charcot-Marie-Tooth disease type 1A
Centre de Génétique Humaine - Erasme ULB
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