Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL

Flavio Faletra, Emmanouil Athanasakis, Federico Minen, Federico Fornasier, Federico Marchetti, Paolo Gasparini

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)256-258
Number of pages3
JournalOphthalmic Genetics
Volume32
Issue number4
DOIs
Publication statusPublished - Nov 2011

Keywords

  • C.1020+1G>A
  • novel mutation
  • Peters plus syndrome; B3GALTL
  • vertebral schisis

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

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