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Journal Article
FASEB journal : official publication of the Federation of American Societies for Experimental Biology, ISSN 0892-6638, 02/2019, Volume 33, Issue 2, pp. 2707 - 2718
Mutations in the a disintegrin and metalloproteinase with thrombospondin motif-like 2 (ADAMTSL2) gene are responsible for the autosomal recessive form of... 
geleophysic dysplasia | mouse model | extracellular matrix | cartilage | MATRIX | TGF-BETA | BIOCHEMISTRY & MOLECULAR BIOLOGY | DYSPLASIA | PROLIFERATION | BIOAVAILABILITY | CELL BIOLOGY | GROWTH | BIOLOGY | FIBRILLIN-1 | MUTATIONS | DIFFERENTIATION | PROTEINS | Life Sciences
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2012, Volume 90, Issue 4, pp. 740 - 745
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 7 - 14
Journal Article
Arteriosclerosis, Thrombosis, and Vascular Biology, ISSN 1079-5642, 06/2018, Volume 38, Issue 8, pp. 1913 - 1925
OBJECTIVE—Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by the infiltration of multiple tissues with lipid-laden... 
Journal Article
Arteriosclerosis, thrombosis, and vascular biology, ISSN 1079-5642, 06/2018, Volume 38, Issue 8, pp. 1913 - 1925
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by the infiltration of multiple tissues with lipid-laden histiocytes.... 
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2010, Volume 18, Issue 1, pp. 130 - 132
The Stueve-Wiedemann Syndrome (SWS) is a frequently lethal chondrodysplasia caused by null mutations in the leukemia inhibitory factor receptor gene (LIFR)... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, p. 407
Cardiospondylocarpofacial (CSCF) syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and... 
Physiological aspects | Genetic disorders | Gene mutations | Transforming growth factors | Health aspects | Mitogen-activated protein kinases | Signal transduction | Skeletal system | Mutation | Kinases | Genes
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 11/2018, Volume 26, Issue 11, pp. 1611 - 1622
Journal Article