Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association

Clin Dysmorphol. 2014 Jan;23(1):20-23. doi: 10.1097/MCD.0000000000000013.
No abstract available

MeSH terms

  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 16 / genetics
  • Facies
  • Hirschsprung Disease / complications
  • Hirschsprung Disease / genetics*
  • Hirschsprung Disease / pathology*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology*
  • Karyotype
  • Male
  • Microcephaly / complications
  • Microcephaly / genetics*
  • Microcephaly / pathology*

Supplementary concepts

  • Mowat-Wilson syndrome