Intrafamilial phenotypic variability in two siblings with primary ciliary dyskinesia due to homozygous loss of function mutation in the CCDC151 gene

Rras Abu Hanna, Dario Prais, Yoav Zehavi, Waheeb Sakran, Ronen Spiegel*

*Corresponding author for this work

Research output: Contribution to journalComment/debate

1 Scopus citations
Original languageEnglish
Pages (from-to)260-262
Number of pages3
JournalIsrael Medical Association Journal
Issue number4
StatePublished - Apr 2020


  • Autosomal recessive
  • CCDC151 gene
  • Genotype-phenotype correlation
  • Primary ciliary dyskinesia (PCD)
  • Situs inversus

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