Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK

Craniometaphyseal dysplasia (CMD) is a rare skeletal disorder characterized by progressive thickening and increased mineral density of craniofacial bones and abnormally developed metaphyses in long bones. Linkage studies mapped the locus for the autosomal dominant form of CMD to an ∼5-cM interval on...

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Autores principales: Reichenberger, Ernst, Tiziani, Valdenize, Watanabe, Shoji, Park, Lucy, Ueki, Yasuyoshi, Santanna, Carla, Baur, Scott T., Shiang, Rita, Grange, Dorothy K., Beighton, Peter, Gardner, Jessica, Hamersma, Herman, Sellars, Sean, Ramesar, Rajkumar, Lidral, Andrew C., Sommer, Annmarie, Raposo do Amaral, Cassio M., Gorlin, Robert J., Mulliken, John B., Olsen, Bjorn R.
Formato: Artigo
Lenguaje:Inglês
Publicado: The American Society of Human Genetics 2001
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226118/
https://ncbi.nlm.nih.gov/pubmed/11326338
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