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Case Reports
. 1978 Mar;35(3):269-79.

[Genetic transmission of Lowe's oculo-cerebro-renal syndrome in girl]

[Article in French]
B Bétend, M Scherrer, A Evrard, B Votan-Bonnamour, M Hermier
  • PMID: 666523
Case Reports

[Genetic transmission of Lowe's oculo-cerebro-renal syndrome in girl]

[Article in French]
B Bétend et al. Arch Fr Pediatr. 1978 Mar.

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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