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

Research output: Contribution to journalArticle

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

Cite this