Prenatal diagnosis of Löwe'S syndrome: A case report with evidence of de novo mutation

E. Gazit, N. Brand, Y. Harel, D. Lotan, G. Barkai

Research output: Contribution to journalArticlepeer-review

Abstract

A case of oculocerebrorenal (Löwe) syndrome is presented in which analysis of the pattern of RFLP suggested that the gene originally mutated in the grandfather' s X‐chromosome and became clinically apparent in one of his male grandsons.

Original languageEnglish
Pages (from-to)257-260
Number of pages4
JournalPrenatal Diagnosis
Volume10
Issue number4
DOIs
StatePublished - Apr 1990
Externally publishedYes

Keywords

  • Löwe syndrome
  • New mutation
  • X‐linkage

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