Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene

Am J Med Genet A. 2006 Sep 1;140A(17):1876-9. doi: 10.1002/ajmg.a.31390.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 2
  • Cytoskeletal Proteins
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics
  • Female
  • Gene Duplication*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Male
  • Membrane Proteins
  • Polymorphism, Genetic*
  • Proteins / genetics*
  • Speech Disorders / diagnosis
  • Speech Disorders / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • Cytoskeletal Proteins
  • Membrane Proteins
  • NPHP1 protein, human
  • Proteins