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Laboratory
Achondrogenesis / Kniest dysplasia / Hypochondrogenesis
COL2A1
Achondrogenesis type 2
,
Hypochondrogenesis
,
Kniest dysplasia
,
Multiple epiphyseal dysplasia, Beighton type
,
Spondyloepiphyseal dysplasia congenita
,
Stickler syndrome type 1
Centrum Medische Genetica - UZ Gent
Pituitary adenoma (4 genes)
MEN1
,
AIP
,
CDKN1B
,
PRKAR1A
Pituitary adenoma (4 genes) - ULG
Familial isolated pituitary adenoma
,
Silent pituitary adenoma
,
Null pituitary adenoma
,
Multiple endocrine neoplasia type 1
,
Multiple endocrine neoplasia type 4
,
Carney complex
Centre de Génétique Humaine - CHU Sart-Tilman
Pituitary adenoma (5 genes)
AIP
,
CDKN1B
,
MEN1
,
RET
,
PRKAR1A
Pituitary adenoma (5 genes) - UCL
Familial isolated pituitary adenoma
,
Silent pituitary adenoma
,
Null pituitary adenoma
,
Prolactinoma
,
Pituitary gigantism
,
Acromegaly
Centre de Génétique Médicale UCL
Venous malformation (3 genes)
TEK
,
GLMN
Venous malformation (3 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Blue rubber bleb nevus
,
Mucocutaneous venous malformations
,
Glomuvenous malformation
,
Bannayan-Riley-Ruvalcaba syndrome
,
Cowden syndrome
,
Juvenile polyposis of infancy
,
Proteus syndrome
,
Proteus-like syndrome
,
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Centre de Génétique Médicale UCL
Fragile X syndrome/POF/FXTAS - CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centre de Génétique Médicale UCL
Fragile X syndrome/POF/FXTAS - CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centrum Medische Genetica - UZ Gent
Fragile X syndrome/POF/FXTAS - CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Fragile X syndrome/FXPOI/FXTAS - CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centrum Medische Genetica - UZ Antwerpen
Fragile X syndrome/POF/FXTAS - CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centre de Génétique Humaine - Erasme ULB
Fragile X syndrome/POF/FXTAS - FMR1 gene CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
,
Premature Ovarian Failure
Centrum Medische Genetica - UZ Brussel VUB
Fragile X syndrome and fragile X-associated disorders (FXTAS, FXPOI)
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centre de Génétique Humaine - CHU Sart-Tilman
Fragile X syndrome/FXPOI/FXTAS - FMR1 CGG repeat expansion
FMR1
Fragile X syndrome
,
Fragile X-associated tremor/ataxia syndrome
,
Symptomatic form of fragile X syndrome in female carriers
Centrum Menselijke Erfelijkheid - KUL
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