New insights into the phenotypic spectrum of 14q22q23 deletions: A case report and literature review 06 Biological Sciences 0604 Genetics

A. Pichiecchio, G. Vitale, C. Caporali, C. Parazzini, D. Milani, M.P. Recalcati, L. D'Amico, S. Signorini, U. Balottin, S. Bastianello

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Article number87
JournalBMC Medical Genomics
Volume11
Issue number1
DOIs
Publication statusPublished - 2018

Keywords

  • growth differentiation factor 6
  • sonic hedgehog protein
  • transcription factor Otx
  • transcription factor Otx2
  • transcription factor PAX6
  • transcription factor Sox2, 14q22q23 deletion
  • agenesis
  • blepharophimosis
  • brain malformation
  • case report
  • Caucasian
  • cerebellar vermis hypoplasia
  • cerebellum hypoplasia
  • child
  • choana atresia
  • chromosome deletion
  • clinical article
  • comparative genomic hybridization
  • corpus callosum agenesis
  • cryptorchism
  • developmental delay
  • disease association
  • electroencephalography
  • electroretinography
  • endoscopy
  • enophthalmos
  • eye enucleation
  • follow up
  • GDF6 gene
  • gene
  • genetic variability
  • gestational age
  • growth retardation
  • human
  • hypoplasia
  • male
  • microphthalmia
  • muscle hypotonia
  • nasal endoscopy
  • nuclear magnetic resonance imaging
  • optic nerve disease
  • optic nerve hemi chiasm
  • optic nerve homolateral agenesis
  • OTX gene
  • OTX2 gene
  • PAX6 gene
  • premature fetus membrane rupture
  • preschool child
  • priority journal
  • RAX gene
  • Review
  • scrotal hypoplasia
  • scrotum disorder
  • SHH gene
  • SOX2 gene
  • spontaneous abortion
  • vermian dysmorphism
  • VSX2 gene

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