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Sessile serrated polyposis syndrome (RNF43 gene)
RNF43
Serrated polyposis syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
AIRE
Autoimmune polyendocrinopathy type 1
Centrum Menselijke Erfelijkheid - KUL
Leiomyomatosis and renal cell cancer
FH
Hereditary leiomyomatosis and renal cell cancer
Centre de Génétique Médicale UCL
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
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