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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
Craniosynostosis syndromes (Apert, Crouzon)
FGFR2
Crouzon syndrome
,
Apert syndrome
Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Apert syndrome (hot spot mutations - exon 7)
FGFR2
Apert syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Kallmann syndrome (ANOS1 gene)
ANOS1
Kallmann syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Kallmann syndrome / Hypogonadotropic Hypogonadism (FGFR1 gene)
FGFR1
Kallmann syndrome
,
Normosmic congenital hypogonadotropic hypogonadism
Centre de Génétique Humaine - CHU Sart-Tilman
Glycogen storage disease type 1a
G6PC1
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Centre de Génétique Humaine - CHU Sart-Tilman
Hypocalciuric hypercalcemia, familial type II
GNA11
Familial hypocalciuric hypercalcemia type 2
Centre de Génétique Humaine - CHU Sart-Tilman
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