[New genetic mutation associated with Pierson syndrome]

An Pediatr (Barc). 2016 Dec;85(6):321-322. doi: 10.1016/j.anpedi.2016.01.025. Epub 2016 Mar 11.
[Article in Spanish]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Eye Abnormalities / genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Mutation*
  • Myasthenic Syndromes, Congenital
  • Nephrotic Syndrome / genetics*
  • Pupil Disorders / genetics*

Supplementary concepts

  • Pierson syndrome