Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities

Am J Med Genet A. 2011 Oct;155A(10):2601-4. doi: 10.1002/ajmg.a.34214. Epub 2011 Sep 9.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology*
  • Base Sequence
  • Biopsy
  • Chromosomes, Human, Pair 3 / genetics*
  • Eye Abnormalities / genetics*
  • Eye Abnormalities / pathology*
  • Fatal Outcome
  • Germany
  • Haplotypes / genetics
  • Humans
  • Kidney / pathology
  • Laminin / genetics
  • Laminin / metabolism
  • Male
  • Molecular Sequence Data
  • Myasthenic Syndromes, Congenital
  • Nephrotic Syndrome
  • Phenotype*
  • Pupil Disorders / genetics*
  • Pupil Disorders / pathology*
  • Sequence Analysis, DNA
  • Uniparental Disomy / genetics*

Substances

  • Laminin
  • laminin beta2

Supplementary concepts

  • Pierson syndrome