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Leber hereditary optic neuropathy (LHON) – (DNAJC30 gene)
DNAJC30
Leber hereditary optic neuropathy
Centrum Medische Genetica - UZ Brussel VUB
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)
MT-ND1
,
MT-ND4
,
MT-ND6
Leber hereditary optic neuropathy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)
MT-ND1
,
MT-ND4
,
MT-ND6
LHON (3 genes) - VUB
Leber hereditary optic neuropathy
Centrum Medische Genetica - UZ Brussel VUB
Hirschsprung disease
Hirschsprung disease - Ugent
Hirschsprung disease
Centrum Medische Genetica - UZ Gent
Multiple Endocrine Neoplasia type 2A and 2B / Familial medullary thyroid carcinoma
RET
Multiple endocrine neoplasia type 2A
,
Multiple endocrine neoplasia type 2B
,
Familial medullary thyroid carcinoma
,
Hirschsprung disease
Centrum Medische Genetica - UZ Gent
Hirschsprung disease
RET
Hirschsprung disease
Centrum Menselijke Erfelijkheid - KUL
Hirschsprung disease
RET
Hirschsprung disease
Centre de Génétique Médicale UCL
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
Thanatophoric dysplasia (hot spot mutations - p.Arg248 / p.Gly370 / p.Ser371 / p.Tyr373 / p.Lys650 / p.X806 in FGFR3 gene)
FGFR3
Thanatophoric dysplasia type 2
,
Thanatophoric dysplasia type 1
Centrum Medische Genetica - UZ Gent
Thanatophoric dysplasia types 1 and 2 (hot spot mutation - p.Lys650Glu)
FGFR3
Thanatophoric dysplasia type 1
,
Thanatophoric dysplasia type 2
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Thanatophoric dysplasia (hot spot mutations - p.Tyr373Cys, p.Arg248Cys, p.Ser249Cys)
FGFR3
Thanatophoric dysplasia type 1
,
Thanatophoric dysplasia type 2
Centrum Medische Genetica - UZ Antwerpen
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