Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly

Clin Genet. 2018 Jul;94(1):182-184. doi: 10.1111/cge.13211. Epub 2018 Mar 2.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Codon, Nonsense*
  • Coloboma / diagnosis
  • Coloboma / genetics*
  • Exome Sequencing
  • Facies
  • Genetic Predisposition to Disease
  • Hedgehog Proteins / genetics*
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Microcephaly / diagnosis
  • Microcephaly / genetics*
  • Pedigree
  • Phenotype*

Substances

  • Codon, Nonsense
  • Hedgehog Proteins
  • SHH protein, human