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Rhabdoid Tumor Predisposition Syndrome (SMARCA4; SMARCB1 genes)
SMARCB1
,
SMARCA4
Rhabdoid tumor predisposition syndrome
Centrum Menselijke Erfelijkheid - KUL
Leri-Weill dyschondrosteosis / SHOX-related short stature
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centrum Medische Genetica - UZ Gent
Leri-Weill dyschondrosteosis / SHOX-related short stature
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leri-Weill dyschondrosteosis / SHOX-related short stature
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centrum Medische Genetica - UZ Antwerpen
Leri-Weill dyschondrosteosis / ISS
SHOX
Léri-Weill dyschondrosteosis
,
SHOX-related short stature
Centre de Génétique Humaine - CHU Sart-Tilman
Blepharophimosis type I /II
FOXL2
Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
,
Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
Centrum Medische Genetica - UZ Gent
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