Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.

@article{Dndar2009LossOD,
  title={Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.},
  author={Munis D{\"u}ndar and Thomas Mueller and Qi Zhang and Jing Pan and Beat Steinmann and Julia Vodopiutz and Robert Gruber and Tohru Sonoda and Birgit Krabichler and Gerd Utermann and Jacques U. Baenziger and Lijuan Zhang and Andreas R Janecke},
  journal={American journal of human genetics},
  year={2009},
  volume={85 6},
  pages={873-82}
}
Adducted thumb-clubfoot syndrome is an autosomal-recessive disorder characterized by typical facial appearance, wasted build, thin and translucent skin, congenital contractures of thumbs and feet, joint instability, facial clefting, and coagulopathy, as well as heart, kidney, or intestinal defects. We elucidated the molecular basis of the disease by using a SNP array-based genome-wide linkage approach that identified distinct homozygous nonsense and missense mutations in CHST14 in each of four… CONTINUE READING
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