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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
Leber Congenital Amaurosis - Retinal dystrophy, early onset (gene panel)
Leber Congenital Amaurosis - UGent
Leber congenital amaurosis
,
Cone rod dystrophy
,
Retinitis pigmentosa
,
Senior-Loken syndrome
,
Severe early-childhood-onset retinal dystrophy
Centrum Medische Genetica - UZ Gent
Uniparental Disomy (UDP7; UDP11; UDP14; UDP15; UDP16)
Paternal uniparental disomy of chromosome 7
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
,
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
,
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
,
Maternal uniparental disomy of chromosome 16
Centrum Medische Genetica - UZ Gent
Uniparental Disomy (UDP7; UDP11; UDP14; UDP20)
Paternal uniparental disomy of chromosome 7
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
,
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
,
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
,
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
Centrum Menselijke Erfelijkheid - KUL
Temple syndrome / Kagami-Ogata Syndrome
DLK1
,
MEG3
,
RTL1
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Temple syndrome due to paternal 14q32.2 hypomethylation
,
Temple syndrome due to paternal 14q32.2 microdeletion
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
,
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Centre de Génétique Médicale UCL
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