Holoprosencephaly: report of four cases and genotype-phenotype correlations

J Genet. 2013 Apr;92(1):97-101. doi: 10.1007/s12041-013-0215-5.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abortion, Eugenic
  • Chromosomes, Human, Pair 7
  • Comparative Genomic Hybridization
  • Female
  • Genetic Association Studies
  • Hedgehog Proteins / genetics
  • Holoprosencephaly / diagnostic imaging*
  • Holoprosencephaly / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Sequence Deletion
  • Ultrasonography, Prenatal

Substances

  • Hedgehog Proteins
  • SHH protein, human