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American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2015, Volume 167, Issue 12, pp. 2869 - 2892
The purpose of the nosology is to serve as a "master" list of the genetic disorders of the skeleton to facilitate diagnosis and to help delineate variant or... 
nosology | molecular basis of disease | dwarfism | skeletal dysplasias | Dwarfism | Nosology | Molecular basis of disease | Skeletal dysplasias | NOMENCLATURE | GENETICS & HEREDITY | CONSTITUTIONAL DISORDERS | Bone Diseases - classification | Bone Diseases - genetics | Humans | Genetic Diseases, Inborn - classification
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2017, Volume 16, Issue 6, pp. 417 - 418
[...]she possibly had Kniest dysplasia or another metatropic dwarfism. 
Neurology | NEUROFIBROMATOSIS | CLINICAL NEUROLOGY | HISTORY | Paintings - history | Neurofibromatosis 1 | History, 15th Century | Face | Humans | Dwarfism | Dysplasia
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 10/2015, Volume 30, Issue 10, pp. 1814 - 1821
Journal Article
New England Journal of Medicine, ISSN 0028-4793, 11/2016, Volume 375, Issue 19, pp. 1902 - 1903
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2017, Volume 16, Issue 6, pp. 417 - 417
[...]careful observation of both the post-restoration and pre-restoration pictures does not confirm this sign. [...]even if the three facial skin lesions were... 
Neurology | CLINICAL NEUROLOGY | Paintings - history | Neurofibromatosis 1 | History, 15th Century | Face | Humans | Hypoplasia | Skin diseases | Painting
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2011, Volume 43, Issue 2, pp. 132 - 137
Journal Article
Nature Genetics, ISSN 1061-4036, 2016, Volume 48, Issue 7, pp. 777 - 784
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 03/2011, Volume 26, Issue 3, pp. 666 - 672
Journal Article