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Supravalvular aortic stenosis
ELN
Centrum Medische Genetica - UZ Gent
Arterial Tortuosity Syndrome
SLC2A10
,
EFEMP2
Arterial tortuosity syndrome
Centrum Medische Genetica - UZ Gent
Spinocerebellar ataxia (type 13)
KCNC3
Spinocerebellar ataxia type 13
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
Uniparental disomy
7p12.1
,
7q32.2
Silver-Russell syndrome
Centre de Génétique Médicale UCL
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