Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

@article{Munroe1999MutationsIT,
  title={Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome},
  author={Patricia B. Munroe and Rana Olgunturk and J. -P. Fryns and Lionel Van Maldergem and France Ziereisen and Bulend Yuksel and R. Mark Gardiner and Eddie M. K. Chung},
  journal={Nature Genetics},
  year={1999},
  volume={21},
  pages={142-144}
}
Keutel syndrome (KS, MIM 245150) is an autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and midfacial hypoplasia. A genome search using homozygosity mapping provided evidence of linkage to chromosome 12p12.3-13.1 (maximum multipoint lod score, 4.06). MGP was a candidate on the basis of its localization to this chromosomal region and the known function of its protein. MGP maps to chromosome 12p near D12S363 (refs 2,3). Human MGP is a… Expand
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