Mucolipidosis III and bardet-biedl syndrome in the same family: Diagnostic pitfalls

Carlos R. Gordon, Yaacov Bar-Ziv, Moshe Frydman, Joel Zlotogora, Natan Gadoth

Research output: Contribution to journalArticlepeer-review

Abstract

Two brothers, offspring of an Arab inbred family suffered from both mucolipidosis III (ML-III) and Bardet-Biedl syndrome (BBS). Other members of this family were affected either with ML-III, or with BBS. It seems that this unique combination is probably coincidental.

Original languageEnglish
Pages (from-to)403-407
Number of pages5
JournalBrain and Development
Volume12
Issue number4
DOIs
StatePublished - 1990

Keywords

  • Mucolipidosis III
  • chrondro-dystrophy
  • genetic load
  • hypogonadism
  • lysosomes
  • retinitis

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