Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene

Eur J Dermatol. 2010 Sep-Oct;20(5):634-5. doi: 10.1684/ejd.2010.0995. Epub 2010 Jul 7.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • 3-Hydroxysteroid Dehydrogenases / genetics*
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Codon, Nonsense*
  • DNA Mutational Analysis
  • Female
  • Humans
  • Ichthyosis / genetics
  • Ichthyosis / pathology
  • Infant
  • Nevus / congenital
  • Nevus / genetics*
  • Syndrome

Substances

  • Codon, Nonsense
  • 3-Hydroxysteroid Dehydrogenases
  • Nsdhl protein, human