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Biomedical subjects

R Coppieters

Publications and source records attributed to R Coppieters.

17 recordsLinked to original sources

Late extraocular tumours in retinoblastoma survivors.

Radiogenic or non-radiogenic osteosarcomas were found in approximately 15% of the observed bilateral retinoblastoma cases, and only exceptionally in the unilateral cases. Such osteosarcomas are also seen in subjects without retinoblastoma, but belonging to affected families. Late second malignant extraocular tumours were only observed when we were dealing with a germinal mutation, that is in hereditary retinoblastoma. They are due to a pleiotropic effect of a single gene situated on the chromosome D13 (q14), or to two different but very close genes.

Adolescent↗

Aniridia-Wilms' tumour syndrome.

The association of aniridia and Wilms' tumour constitutes a real syndrome, which is genetic. It may either be autosomal dominant or depend on a chromosomal deletion or also, according to Knudson's theory, be due to two mutational events, the initiating mutation being germinal and the promoting mutation being post-zygotical.

Child, Preschool↗

[Homocystinuria].

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Cardiovascular Diseases↗