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PLoS Genetics, ISSN 1553-7390, 03/2016, Volume 12, Issue 3, p. e1005936
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2016, Volume 12, Issue 3
Spondylocarpotarsal synostosis (SCT) is an autosomal recessive disorder characterized by progressive vertebral fusions and caused by loss of function mutations... 
Physiological aspects | Genetic aspects | Transforming growth factors | Binding proteins | Cartilage cells | Growth | Proteins | Signal transduction | Mutation | Funding | Genes | Apoptosis
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 926 - 931
Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow... 
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2012, Volume 90, Issue 3, pp. 550 - 557
Fibroblast growth factor receptor 2 (FGFR2) is a crucial regulator of bone formation during embryonic development. Both gain and loss-of-function studies in... 
ACTIVATION | DISRUPTION | CROUZON | APERT-SYNDROME | LADD SYNDROME | GROWTH | MOUSE | GENETICS & HEREDITY | MUTATIONS | INDUCTION | RECEPTOR-2 | Amino Acid Sequence | Fetus - abnormalities | Receptor, Fibroblast Growth Factor, Type 2 - metabolism | Signal Transduction | Humans | Fetus - metabolism | Molecular Sequence Data | Bone Diseases, Developmental - genetics | Fibroblast Growth Factors - deficiency | Mutation, Missense | Fibroblast Growth Factors - metabolism | Bone Diseases, Developmental - metabolism | Bone and Bones - metabolism | Heterozygote | Skeleton | Mutation | Bone and Bones - abnormalities | Bone and Bones - embryology | Osteoblasts - metabolism | Craniofacial Abnormalities - metabolism | Chondrocytes - metabolism | Craniofacial Abnormalities - genetics | Osteogenesis - genetics | Receptor, Fibroblast Growth Factor, Type 2 - genetics | Gene mutations | Developmental bone diseases | Causes of | Genetic aspects | Research | Health aspects | Fibroblast growth factor receptors | Cell proliferation | Osteoprogenitor cells | Fibroblast growth factor | Periosteum | Craniosynostosis | Teeth | Amino acids | Hydrophobicity | Growth plate | Embryogenesis | Missense mutation | Chondrocytes | Bone dysplasia | Bone (long) | Transmembrane domains | Differentiation | Fibroblast growth factor receptor 2 | Osteogenesis | Report
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, p. 926
  Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow... 
Pathogenesis | Genes | Bones | Mutation | Chromosomes
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 03/2012, Volume 90, Issue 3, p. 550
Fibroblast growth factor receptor 2 (FGFR2) is a crucial regulator of bone formation during embryonic development. Both gain and loss-of-function studies in... 
Dwarfism | Signal transduction | Amino acids | Genetics | Histology | Mutation
Journal Article
PLoS Genetics, 03/2016, Volume 12, Issue 3
Spondylocarpotarsal synostosis (SCT) is an autosomal recessive disorder characterized by progressive vertebral fusions and caused by loss of function mutations... 
Journal Article
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