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Facioscapulohumeral muscular dystrophy 1A (D4Z4 repeat)
FRG1
Facioscapulohumeral dystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Facioscapulohumeral muscular dystrophy 1A (D4Z4 repeat)
FRG1
Facioscapulohumeral dystrophy
Centrum Menselijke Erfelijkheid - KUL
Achondroplasia (hot spot mutation - p.Glu380Arg in FGFR3 gene)
FGFR3
Achondroplasia
Centrum Medische Genetica - UZ Gent
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250 in FGFR3 gene )
FGFR3
Muenke syndrome
Centrum Medische Genetica - UZ Gent
Hypochondroplasia (hot spot mutations - p.Asn540; p.Ile538; p.Lys650 FGFR3)
FGFR3
Hypochondroplasia
Centrum Medische Genetica - UZ Gent
Thanatophoric dysplasia (hot spot mutations - p.Arg248 / p.Gly370 / p.Ser371 / p.Tyr373 / p.Lys650 / p.X806 in FGFR3 gene)
FGFR3
Thanatophoric dysplasia type 2
,
Thanatophoric dysplasia type 1
Centrum Medische Genetica - UZ Gent
Achondroplasia (hot spot mutation - p.Gly380)
FGFR3
Achondroplasia
Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg)
FGFR3
Muenke syndrome
Centrum Medische Genetica - UZ Antwerpen
Achondroplasia (hot spot mutation - p.Gly380)
FGFR3
Achondroplasia
Centre de Génétique Humaine - Erasme ULB
Achondroplasia (FGFR3 hot spot mutation - p.Gly380)
FGFR3
Achondroplasia
Centrum Medische Genetica - UZ Brussel VUB
Achondroplasia (hot spot mutation - p.Gly380Arg)
FGFR3
Achondroplasia
Centre de Génétique Humaine - CHU Sart-Tilman
Craniosynostosis / Muenke syndrome (hot spot mutation - p.Pro250Arg)
FGFR3
Muenke syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Craniosynostosis / Crouzon syndrome (hot spot mutation - exon 9)
FGFR3
Crouzon syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Hypochondroplasia (Hotspot mutation p.(Asn540Lys))
FGFR3
Hypochondroplasia
Centre de Génétique Humaine - CHU Sart-Tilman
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