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Genetics in Medicine, ISSN 1098-3600, 06/2010, Volume 12, Issue 6, pp. 327 - 341
Journal Article
Journal of Nepal Paediatric Society, ISSN 1990-7974, 2015, Volume 35, Issue 3, pp. 304 - 306
Thanatophoric Dysplasia (TD) is a severe skeletal dysplasia that is lethal in the neonatal period. There are two defined TD subtypes which have been classified... 
Lethal skeletal dysplasia | Kleeblattschaedel | Thanatophoric dysplasia | Cloverleaf skull
Journal Article
South African Medical Journal, ISSN 0256-9574, 06/2016, Volume 106, Issue 6, pp. S50 - S53
Thanatophoric dysplasia is a well-known cause of potentially lethal short-limbed dwarfism in the newborn. The diagnosis is usually made by the recognition of... 
DIAGNOSIS | MEDICINE, GENERAL & INTERNAL | ACHONDROPLASIA | FGFR3 GENE | GROWTH-FACTOR RECEPTOR-3 | MUTATIONS | DWARFISM | LETHAL SKELETAL DYSPLASIA | Thanatophoric Dysplasia - diagnosis | Autopsy | Humans | Thanatophoric Dysplasia - physiopathology | Brain - pathology | Thanatophoric Dysplasia - diagnostic imaging | Prenatal Diagnosis - methods
Journal Article
Human Genetics, ISSN 0340-6717, 2016, Volume 135, Issue 5, pp. 569 - 586
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2010, Volume 362, Issue 3, pp. 206 - 216
Journal Article
Genes and Development, ISSN 0890-9369, 03/2004, Volume 18, Issue 5, pp. 559 - 571
Journal Article
Human Mutation, ISSN 1059-7794, 01/2012, Volume 33, Issue 1, pp. 29 - 41
In 1994, the field of bone biology was significantly advanced by the discovery that activating mutations in the fibroblast growth factor receptor 3 (FGFR3)... 
MAP kinase | chondrocyte | FGF | FGFR3 | skeletal dysplasia | Skeletal dysplasia | Chondrocyte | TYROSINE KINASE DOMAIN | BONE-GROWTH | PHOSPHATIDYLINOSITOL 3-KINASE | ERK MAP KINASE | MULTIPLE-MYELOMA CELLS | THANATOPHORIC DYSPLASIA | HORMONE-RELATED PROTEIN | GENETICS & HEREDITY | CHONDROCYTE PROLIFERATION | C-NATRIURETIC PEPTIDE | ACTIVATING MUTATIONS | Osteochondrodysplasias - pathology | Cell Proliferation | Skin - metabolism | Humans | Fibroblast Growth Factors - genetics | Phosphatidylinositol 3-Kinases - metabolism | Receptor, Fibroblast Growth Factor, Type 3 - metabolism | Genes, Lethal | Fibroblast Growth Factors - metabolism | STAT1 Transcription Factor - metabolism | MAP Kinase Signaling System - genetics | Osteochondrodysplasias - genetics | Bone and Bones - metabolism | Chondrocytes - metabolism | Skin - pathology | Skin Neoplasms - pathology | Chondrocytes - pathology | Receptor, Fibroblast Growth Factor, Type 3 - genetics | Signal Transduction | Gene Expression Regulation | Cell Communication | Cartilage - metabolism | STAT1 Transcription Factor - genetics | Skin Neoplasms - metabolism | Phosphatidylinositol 3-Kinases - genetics | Cartilage - abnormalities | Natriuretic Peptide, C-Type - metabolism | Skin Neoplasms - genetics | Natriuretic Peptide, C-Type - genetics | Mutation | Bone and Bones - abnormalities | Osteochondrodysplasias - metabolism
Journal Article