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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
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
Central Precocious Puberty (5 genes)
MKRN3
,
KISS1
,
KISS1R
,
PROKR2
,
DLK1
Central Precocious Puberty (5 genes) - ULG
Idiopathic central precocious puberty
Centre de Génétique Humaine - CHU Sart-Tilman
Immunodeficiency - Activated PI3K-delta syndrome
PIK3CD
Activated PI3K-delta syndrome
Centrum Menselijke Erfelijkheid - KUL
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