CHARGE syndrome with del(3)(p13p21): Expanding the genotype: Expanding the genotype

Nivin Moustafa-Hawash, Tatiana Smolkin, Anat Ilivitzki, Avishag Zimberg-Bossira, Anna Gildish, Ruth Gershoni-Baruch, Imad R. Makhoul

Research output: Contribution to journalArticlepeer-review

2 Scopus citations
Original languageEnglish
Pages (from-to)133-134
Number of pages2
JournalIsrael Medical Association Journal
Issue number2
StatePublished - 1 Feb 2012


  • CHARGE syndrome
  • Choanal atresia
  • Cryptorchidism
  • Extra rib
  • Horse-shoe kidney
  • Intrauterine growth restriction (IUGR)
  • Iridial coloboma
  • Microcephaly
  • Micropenis
  • Posterior anus
  • Sensorineural hearing loss

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