Associated Papers
Mutations in IFT80 cause SRPS Type IV. Report of two families and review.
Bizaoui V et al.
American Journal of Medical Genetics. Part A, 2019
IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.
Moran J et al.
Clinical Genetics, 2018
Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis.
Taschner M et al.
Elife, 2018
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.
Beales PL et al.
Nature Genetics, 2007
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