CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G

Int J Dermatol. 2021 Apr;60(4):e154-e156. doi: 10.1111/ijd.15296. Epub 2020 Nov 10.
No abstract available

Publication types

  • Letter

MeSH terms

  • 3-Hydroxysteroid Dehydrogenases / genetics
  • Abnormalities, Multiple
  • Adult
  • Child
  • Genetic Diseases, X-Linked*
  • Humans
  • Ichthyosiform Erythroderma, Congenital*
  • Limb Deformities, Congenital*
  • Mutation
  • Mutation, Missense
  • Pedigree

Substances

  • 3-Hydroxysteroid Dehydrogenases
  • Nsdhl protein, human

Supplementary concepts

  • Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects