Craniometaphyseal dysplasia, autosomal dominant
Other Names for this Disease
- Craniometaphyseal dysplasia Jackson type
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ANKH gene. Except in the most severe cases, the lifespan of people with craniometaphyseal dysplasia is normal.Craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The condition is caused by mutations in the
Last updated: 8/24/2010
- Craniometaphyseal dysplasia. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia. Accessed 8/24/2010.
- Genetics Home Reference (GHR) contains information on Craniometaphyseal dysplasia, autosomal dominant. This website is maintained by the National Library of Medicine.
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- The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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