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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
The New England Journal of Medicine, ISSN 0028-4793, 09/2019, Volume 381, Issue 13, pp. 1291 - 1292
To the Editor: Savarirayan et al. (July 4 issue) 1 report increased skeletal growth in patients with achondroplasia (a common type of dwarfism caused by... 
Journal Article
Pathology, ISSN 0031-3025, 2011, Volume 43, pp. S9 - S9
Journal Article
JAMA, ISSN 0098-7484, 10/2007, Volume 298, Issue 13, pp. 1539 - 1547
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2011, Volume 43, Issue 11, pp. 1142 - 1146
Familial digital arthropathy-brachydactyly (FDAB) is a dominantly inherited condition that is characterized by aggressive osteoarthropathy of the fingers and... 
ACTIVATION | CATION CHANNEL | GENETICS & HEREDITY | DYSPLASIA | OSTEOARTHRITIS | SPECTRUM | SENSITIVE ION-CHANNEL | Cell Line | TRPV Cation Channels - physiology | Mutation | Humans | TRPV Cation Channels - genetics | Proteins | Chemical bonds | Arthritis
Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 06/2019, Volume 14, Issue 1, pp. 156 - 7
Background: Familial digital arthropathy-brachydactyly (FDAB) and Thiemann disease are non-inflammatory digital arthropathies with many phenotypic... 
MEDICINE, RESEARCH & EXPERIMENTAL | TRPV4 | GENETICS & HEREDITY | Osteonecrosis | Arthritis | Hand | Osteoarthritis | Medicine, Experimental | Genetic research | Medical research | Bones | Research | Necrosis | Analysis | Medical genetics | Online searching | Internet/Web search services | Database searching
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2009, Volume 41, Issue 9, pp. 1016 - 1021
Journal Article