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Li-Fraumeni syndrome
TP53
Li-Fraumeni syndrome
Centrum Menselijke Erfelijkheid - KUL
Li-Fraumeni Syndrome
TP53
Li-Fraumeni syndrome
Centre de Génétique Médicale UCL
Li-Fraumeni Syndrome
TP53
Li-Fraumeni syndrome
Centrum Medische Genetica - UZ Gent
Breast cancer, hereditary / Li-Fraumeni syndrome (Hot spot mutation - 1100delC)
CHEK2
Li-Fraumeni syndrome
,
Hereditary breast and/or ovarian cancer syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Li-Fraumeni Syndrome (TP53 gene)
TP53
Li-Fraumeni syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Cataract, juvenile with microcornea and glucosuria
SLC16A12
Juvenile cataract-microcornea-renal glucosuria syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyltransferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, myopathic form
,
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
,
Carnitine palmitoyl transferase II deficiency, myopathic form
Centrum Medische Genetica - UZ Antwerpen
Immune deficiency, X-linked, with hyperIgM
CD40LG
X-linked hyper-IgM syndrome
Centrum Menselijke Erfelijkheid - KUL
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