[Genetic transmission of Lowe's oculo-cerebro-renal syndrome in girl]
- PMID: 666523
[Genetic transmission of Lowe's oculo-cerebro-renal syndrome in girl]
Abstract
A girl who had all the clinical laboratory features of Lowe's syndrome is described. In the literature there are at least 5 other females recorded. They could arise by the preferential inactivation of the normal chromosome (lyon's hypothesis) or alternatively an autosomal dominant mode of inheritance with weak penetrance could be postulated.
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