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Ectopia lentis
LTBP2
,
ADAMTSL4
,
FBN1
Isolated ectopia lentis
Centrum Medische Genetica - UZ Gent
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
Colon carcinoma (hereditary/familial) (gene panel)
Colon carcinoma (hereditary/familial) (gene panel) (12 genes) - VUB
APC-related attenuated familial adenomatous polyposis
,
Familial adenomatous polyposis
,
Familial colorectal cancer Type X
,
Generalized juvenile polyposis/juvenile polyposis coli
,
Hereditary mixed polyposis syndrome
,
Hereditary nonpolyposis colorectal cancer
,
Lynch syndrome
,
MUTYH-related attenuated familial adenomatous polyposis
Centrum Medische Genetica - UZ Brussel VUB
Oligodontia-colorectal cancer syndrome
AXIN2
Oligodontia-cancer predisposition syndrome
Centre de Génétique Médicale UCL
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