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Craniosynostosis syndromes (Apert, Crouzon)
FGFR2
Crouzon syndrome
,
Apert syndrome
Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Crouzon syndrome (hot spot mutation - exon 9)
FGFR3
Crouzon syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Hypoparathyroidism sensorineural deafness and renal disease
GATA3
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Hypocalciuric hypercalcemia, familial type III
AP2S1
Familial hypocalciuric hypercalcemia type 3
Centre de Génétique Humaine - CHU Sart-Tilman
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
Chromosome 21
,
Chromosome 13
,
Chromosome 18
Down syndrome
,
Trisomy 13
,
Trisomy 18
Centrum Menselijke Erfelijkheid - KUL
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
Chromosome 21
,
Chromosome 13
,
Chromosome 18
Down syndrome
,
Trisomy 13
,
Trisomy 18
Centrum Medische Genetica - UZ Gent
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
Chromosome 21
,
Chromosome 13
,
Chromosome 18
Down syndrome
,
Trisomy 13
,
Trisomy 18
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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