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AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 1552-4825, 10/2012, Volume 158A, Issue 10, pp. 2391 - 2392
Journal Article
Journal Article
Journal Article
CLINICAL GENETICS, ISSN 0009-9163, 12/2005, Volume 68, Issue 6, pp. 477 - 486
Pachydermoperiostosis (PDP) is a rare genodermatosis, characterized by pachydermia, digital clubbing, periostosis and an excess of affected males. Although an... 
genetic counselling | Touraine | INVOLVEMENT | PROLIFERATION | SYMPTOMS | FIBROBLASTS | genetic heterogeneity | FAMILY | CHILDREN | pathogenesis | primary hypertrophic osteoarthropathy | candidate gene | CURRARINOS-DISEASE | Gole syndrome | GENETICS & HEREDITY | Currarino idiopathic osteoarthropathy | Solente | GROWTH-FACTOR | IDIOPATHIC OSTEOARTHROPATHY
Journal Article
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