NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders

J Med Genet. 2005 Feb;42(2):e9. doi: 10.1136/jmg.2004.027375.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Brain Stem / abnormalities
  • Cerebellum / abnormalities*
  • Child, Preschool
  • Cytoskeletal Proteins
  • DNA Mutational Analysis
  • Female
  • Gene Deletion*
  • Humans
  • Kidney Diseases / diagnosis
  • Kidney Diseases / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Membrane Proteins
  • Nervous System Diseases / diagnosis
  • Nervous System Diseases / genetics*
  • Proteins / genetics*
  • Retinal Diseases / diagnosis
  • Retinal Diseases / genetics*
  • Syndrome

Substances

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