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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
Hypochondroplasia (hot spot mutations - p.Asn540; p.Ile538; p.Lys650 FGFR3)
FGFR3
Hypochondroplasia
Centrum Medische Genetica - UZ Gent
Hypochondroplasia (hot spot mutation - p.Asn540)
FGFR3
Hypochondroplasia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypochondroplasia (hot spot mutation - p.Asn540Lys)
FGFR3
Hypochondroplasia
Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (full sequencing)
FGFR3
Hypochondroplasia
Centrum Medische Genetica - UZ Antwerpen
Hypochondroplasia (full sequencing)
FGFR3
Hypochondroplasia
Centre de Génétique Humaine - Erasme ULB
Hypochondroplasia (Hotspot mutation p.(Asn540Lys))
FGFR3
Hypochondroplasia
Centre de Génétique Humaine - CHU Sart-Tilman
Aarskog-Scott syndrome
FGD1
Aarskog-Scott syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Achondrogenesis / Kniest dysplasia / Hypochondrogenesis
COL2A1
Achondrogenesis type 2
,
Hypochondrogenesis
,
Kniest dysplasia
,
Multiple epiphyseal dysplasia, Beighton type
,
Spondyloepiphyseal dysplasia congenita
,
Stickler syndrome type 1
Centrum Medische Genetica - UZ Gent
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