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Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250 in FGFR3 gene )
FGFR3
Muenke syndrome
Centrum Medische Genetica - UZ Gent
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg)
FGFR3
Muenke syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg)
FGFR3
Muenke syndrome
Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Muenke syndrome (hot spot mutation - p.Pro250Arg)
FGFR3
Muenke syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Leydig cell hypoplasia or Precocious puberty, male-limited
LHCGR
Familial peripheral male-limited precocious puberty
,
Leydig cell hypoplasia due to partial LH resistance
,
Leydig cell hypoplasia due to complete LH resistance
Centre de Génétique Humaine - Erasme ULB
Myeloid neoplasms with germline predisposition (Hereditary MDS/Acute Leukemia) (gene panel)
Hereditary Myelodysplastic /Acute Leukemia Predisposition Syndromes (gene panel)
B-cell chronic lymphocytic leukemia
,
Inherited acute myeloid leukemia
,
Chronic myeloid leukemia
,
Atypical chronic myeloid leukemia
,
Precursor B-cell acute lymphoblastic leukemia
,
Familial platelet disorder with associated myeloid malignancy
,
DDX41-related hematologic malignancy predisposition syndrome
,
Idiopathic aplastic anemia
Centre de Génétique Humaine - CHU Sart-Tilman
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