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Journal of Bone and Mineral Research, ISSN 0884-0431, 02/2012, Volume 27, Issue 2, pp. 413 - 428
Progeny of mice treated with the mutagen N‐ethyl‐N‐nitrosourea (ENU) revealed a mouse, designated Longpockets (Lpk), with short humeri, abnormal vertebrae, and... 
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA | OSTEOARTHRITIS | DISORGANIZED GROWTH PLATE | TYPE II COLLAGEN | N‐ETHYL‐N‐NITROSOUREA | N-ETHYL-N-NITROSOUREA | C-PROPEPTIDE | II COLLAGEN DISORDER | ALKALINE-PHOSPHATASE | EPIPHYSEAL DYSPLASIA | PHENOTYPIC SPECTRUM | PROCOLLAGEN GENE | SPONDYLOPERIPHERAL DYSPLASIA | ENDOCRINOLOGY & METABOLISM | DISPROPORTIONATE MICROMELIA DMM | MISSENSE MUTATION | MUTAGENESIS PROGRAM | Growth Plate - pathology | Chromosomes, Mammalian - genetics | Genetic Loci - genetics | Molecular Sequence Data | Male | Mutation, Missense - genetics | Growth Plate - abnormalities | Osteochondrodysplasias - genetics | Base Sequence | Chondrocytes - metabolism | Disease Models, Animal | Osteoarthritis - complications | Amino Acid Sequence | Chondrocytes - pathology | Embryo, Mammalian - pathology | Physical Chromosome Mapping | Mice, Inbred C57BL | Organ Size | Mutant Proteins - metabolism | Collagen Type II - genetics | Embryo, Mammalian - abnormalities | Osteoarthritis - genetics | Phenotype | Animals | Chondrocytes - ultrastructure | Osteochondrodysplasias - congenital | Collagen Type II - chemistry | Mice | Protein Processing, Post-Translational | Osteogenesis | Osteochondrodysplasias - complications | Animal models | Vertebrae | Spine | Embryos | Growth plate | Bone growth | Ethyl nitrosourea | Transfection | Computed tomography | Mutagens | Collagen | Chondrocytes | Bone mineral density | Mutation | Endoplasmic reticulum | Osteoarthritis | chromosome 15 | Vacuoles | Cartilage diseases | Index Medicus
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 12/2007, Volume 15, Issue 12, pp. 1269 - 1275
Journal Article
Gene, ISSN 0378-1119, 06/2013, Volume 522, Issue 1, pp. 107 - 110
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2012, Volume 158A, Issue 8, pp. 1948 - 1952
We describe a fetus with platyspondylic lethal skeletal dysplasia, Torrance type (PLSD‐T), a rare skeletal dysplasia characterized by platyspondyly, extremely... 
spondyloperipheral dysplasia | Torrance | COL2A1 | Spondyloperipheral dysplasia | C-PROPEPTIDE | GENETICS & HEREDITY | II COLLAGENOPATHIES | SPECTRUM | Genes, Lethal | Pregnancy | Osteochondrodysplasias - genetics | Humans | Adult | Female | Mosaicism | Mutation | Collagen Type II - genetics | Dysplasia | Genetic aspects | Pregnant women | Analysis | Medical genetics | Bone dysplasia
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 03/1998, Volume 76, Issue 3, pp. 213 - 216
Journal Article
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