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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
Vitelliform Macular Dystrophy
BEST1
,
PRPH2
,
IMPG1
,
IMPG2
Best vitelliform macular dystrophy
,
Adult-onset foveomacular vitelliform dystrophy
Centrum Medische Genetica - UZ Gent
Bronchiectasis (4 genes)
CFTR
,
SCNN1A
,
SCNN1B
,
SCNN1G
Bronchiectasis (4 genes) - UCL
Idiopathic bronchiectasis
Centre de Génétique Médicale UCL
Bronchiectasies with or without elevated sweat chloride panel (5 genes)
CFTR
,
SCNN1A
,
SCNN1B
,
SCNN1G
Pulmonary/Bronchiectasies (5 genes) - IPG
Idiopathic bronchiectasis
,
Cystic fibrosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Pagination
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