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A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay

  • Zufit Hexner-Erlichman
  • , Boris Fichtman
  • , Yoav Zehavi
  • , Morad Khayat
  • , Haneen Jabaly-Habib
  • , Lee S. Izhaki-Tavor
  • , Moshe Dessau
  • , Orly Elpeleg
  • , Ronen Spiegel
  • Emek Medical Center
  • Technion-Israel Institute of Technology
  • Poriya Medical Center
  • Hadassah University Medical Centre

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4 Scopus citations

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology