Craniometaphyseal dysplasia: A case report

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

Peter Nürnberg, Hölger Thiele, David Chandler et al. · Nature Genetics · 2001 · 243 citations

Medicine, Genetics, Molecular Genetics +17

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

Ernst Reichenberger, Valdenize Tiziani, Shôji Watanabe et al. · The American Journal of Human Genetics · 2001 · 198 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Biochemical and Genetic Analysis of ANK in Arthritis and Bone Disease

Kyle A. Gurley, Richard J. Reimer, David M. Kingsley · The American Journal of Human Genetics · 2006 · 119 citations · Full text

Medicine, Genetics, Molecular Genetics +14

METAPHYSEAL DYSPLASIA, EPIPHYSEAL DYSPLASIA, DIAPHYSEAL DYSPLASIA, AND RELATED CONDITIONS

W. P. U. Jackson · A M A Archives of Internal Medicine · 1954 · 82 citations

Medicine, Developmental Biology, Pathology +10

Craniometaphyseal dysplasia (CMD), autosomal dominant form.

Peter Beighton · Journal of Medical Genetics · 1995 · 56 citations · Full text

Medicine, Craniofacial Biology, Genetics +14