Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

@article{Merrill2009CiliaryAD,
  title={Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.},
  author={Amy E Merrill and Barry Merriman and Claire Farrington-Rock and Natalia Camacho and Eiman T Sebald and Vincent A. Funari and Matthew J. Schibler and Marc H Firestein and Zachary Cohn and Mary Ann Priore and Alicia K Thompson and David L. Rimoin and Stanley F. Nelson and Daniel H Cohn and Deborah Krakow},
  journal={American journal of human genetics},
  year={2009},
  volume={84 4},
  pages={542-9}
}
The short-rib polydactyly (SRP) syndromes are a heterogeneous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein involved in retrograde transport in the cilium. Affected individuals in the family were homozygous for an exon 12 missense mutation that predicted the amino acid substitution R587C. Compound… CONTINUE READING
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