Alström Syndrome: Mutation Spectrum of ALMS1.

  title={Alstr{\"o}m Syndrome: Mutation Spectrum of ALMS1.},
  author={Jan Davis Marshall and Jean Muller and Gayle B Collin and Gabriella Milan and Stephen F Kingsmore and Darrell Lee Dinwiddie and Emily G Farrow and Neil A Miller and Francesca Favaretto and Pietro Maffei and H{\'e}l{\`e}ne J Dollfus and Roberto Vettor and J{\"u}rgen K Naggert},
  journal={Human mutation},
  volume={36 7},
Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement including early cone-rod retinal dystrophy and blindness, hearing loss, childhood obesity, type 2 diabetes mellitus, cardiomyopathy, fibrosis, and multiple organ failure. The precise function of ALMS1 remains elusive, but roles in endosomal and ciliary transport and cell cycle regulation have been shown. The aim of our study was to further define the… CONTINUE READING


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