The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.

@article{Thiel2011TheMB,
  title={The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.},
  author={Christian T Thiel and Anita Rauch},
  journal={Best practice & research. Clinical endocrinology & metabolism},
  year={2011},
  volume={25 1},
  pages={131-42}
}
Cartilage-hair hypoplasia and anauxetic dysplasia are two autosomal recessive skeletal dysplasias characterized by different degrees from metaphyseal to spondylo-meta-epiphyseal dysplasia and variable additional features including predisposition to cancer, anemia, immunodeficiency, and gastrointestinal malabsorption and Hirschsprung's disease. Both are caused by mutations in the untranslated RMRP gene, which forms the RNA subunit of the RNase MRP complex. This complex is involved in the… CONTINUE READING

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An RNA - dependent RNA polymerase formed by TERT and the RMRP RNA

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