A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene

Br J Dermatol. 2014 Apr;170(4):970-3. doi: 10.1111/bjd.12736.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • ATPases Associated with Diverse Cellular Activities
  • Child, Preschool
  • Electron Transport Complex III / genetics*
  • Female
  • Frameshift Mutation / genetics*
  • Hair Diseases / genetics*
  • Hearing Loss, Sensorineural / genetics*
  • Heterozygote
  • Humans
  • Mitochondrial Diseases / congenital*
  • Mitochondrial Diseases / genetics
  • Mutation, Missense / genetics*

Substances

  • BCS1L protein, human
  • ATPases Associated with Diverse Cellular Activities
  • Electron Transport Complex III

Supplementary concepts

  • Bjornstad syndrome