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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
DICER1 Syndrome
DICER1
Maligant granulosa cell tumor of the ovary
Centrum Menselijke Erfelijkheid - KUL
Rare non-epithelial ovarian neoplasms (2 genes)
DICER1
,
SMARCA4
Small cell carcinoma of the ovary
,
Malignant Sertoli-Leydig cell tumor of the ovary
,
Maligant granulosa cell tumor of the ovary
Centrum Menselijke Erfelijkheid - KUL
Dicer1 tumor predisposition syndrome
DICER1
Familial multinodular goiter
,
DICER1 tumor-predisposition syndrome
,
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
,
Malignant Sertoli-Leydig cell tumor of the ovary
,
Maligant granulosa cell tumor of the ovary
,
Gynandroblastoma
Centrum Medische Genetica - UZ Gent
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centre de Génétique Médicale UCL
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp in HFE gene)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centrum Medische Genetica - UZ Gent
Hemochromatosis hereditary type 1 (hot spot mutations p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centrum Medische Genetica - UZ Antwerpen
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centre de Génétique Humaine - Erasme ULB
Hemochromatosis hereditary type 1 (HFE gene hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centrum Medische Genetica - UZ Brussel VUB
Hemochromatosis hereditary type 1 (HFE gene - hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centre de Génétique Humaine - CHU Sart-Tilman
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)
HFE
Symptomatic form of hemochromatosis type 1
,
Hemochromatosis type 1 (NON RARE IN EUROPE)
Centrum Menselijke Erfelijkheid - KUL
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