Craniometaphyseal dysplasia (CMD), autosomal dominant form.

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 ‐variability of expression within a large family

Peter Beighton, Herman A. Hamersma, Frank Horan · Clinical Genetics · 1979 · 58 citations

Medicine, Craniofacial Biology, Craniofacial Genetics +16

Craniofacial surgery in craniometaphyseal dysplasia

D. Ralph Millard, D.O. Maisels, John H.F. Batstone et al. · The American Journal of Surgery · 1967 · 52 citations

Medicine, Maxillofacial Surgery, Surgery +14

Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump.

T. Yamamoto, Noriyoshi Kurihara, Keiichi Ozono et al. · Journal of Clinical Investigation · 1993 · 51 citations · Full text

Medicine, Cell Biology, Bone Metabolism +16

Autosomal recessive craniometaphyseal dysplasia

Víctor B. Penchaszadeh, Estatio R. Gutierrez, P Ernesto Figueroa · American Journal of Medical Genetics · 1980 · 43 citations

Medicine, Craniofacial Biology, Cranial Nerve Disorders +16