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spondyloepimetaphyseal dysplasia (10) 10
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Medicine, ISSN 0025-7974, 01/2019, Volume 98, Issue 1, p. e13780
Journal Article
Journal of Pediatric Orthopaedics, ISSN 0271-6798, 07/2019, Volume 39, Issue 6, pp. 282 - 288
BACKGROUND:Coxa vara has been frequently reported in spondyloepiphyseal dysplasia congenita (SEDC), and proximal femoral osteotomy has been described as a... 
coxa vara | GAIT PATTERN | hip osteotomy | LOWER-EXTREMITY ALIGNMENT | PEDIATRICS | OUTCOMES | ORTHOPEDICS | skeletal dysplasia | spondyloepiphyseal dysplasia | Hip joint | Care and treatment | Osteotomy | Patient outcomes | Abnormalities | Bones | Pediatric research | Methods
Journal Article
Cureus, ISSN 2168-8184, 07/2019, Volume 11, Issue 7
Spondyloepiphysal dysplasia (SED) is an inheritable dysplasia of the bone due to a defect in collagen. It has a prevalence of 3.4 per million. It has two... 
Ultrasonic imaging | Genetic counseling | Internal medicine | Collagen | Myopia | Bones | Ears & hearing | Vertebra | Mutation
Journal Article
European Spine Journal, ISSN 0940-6719, 09/2016, Volume 25, Issue 9, pp. 2967 - 2974
Journal Article
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
American journal of medical genetics. Part A, ISSN 1552-4825, 2015, Volume 167, Issue 3, pp. 461 - 475
Journal Article
Fetal & Pediatric Pathology, ISSN 1551-3815, 1/2010, Volume 29, Issue 1, pp. 57 - 62
We report a case of spondyloepiphyseal dysplasia congenita (SED congenita), diagnosed at autopsy of a term infant. Prenatal ultrasound at 20 weeks of gestation... 
antenatal | COL2A1 | congenital | spondyloepiphyseal dysplasia congenita | skeletal dysplasia | Spondyloepiphyseal dysplasia congenita | Skeletal dysplasia | Congenital | Antenatal | PEDIATRICS | MUTATIONS | PATHOLOGY | Pregnancy | Osteochondrodysplasias - pathology | Diagnosis, Differential | Osteochondrodysplasias - congenital | Humans | Adult | Female
Journal Article
Genetics and Molecular Research, ISSN 1676-5680, 03/2016, Volume 15, Issue 1
Skeletal dysplasia is a group of disorders with more than 450 entities, many of which cannot be differentiated, especially during infancy, but could lead to... 
Wholeexome sequencing | Spondyloepiphyseal dysplasia congenita | COL2A1 | Whole-exome sequencing | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 10/2011, Volume 413, Issue 4, pp. 504 - 508
Journal Article
European Spine Journal, ISSN 0940-6719, 8/2015, Volume 24, Issue 8, pp. 1813 - 1819
Journal Article
Journal of Postgraduate Medical Institute, ISSN 1013-5472, 2019, Volume 33, Issue 1, pp. 85 - 89
Journal Article
Genetic Testing and Molecular Biomarkers, ISSN 1945-0265, 05/2019, Volume 23, Issue 5, pp. 310 - 315
Heterozygous pathogenic variants in the gene result in several clinical features including impaired skeletal growth, ocular and otolaryngological... 
triple helical chain | COL2A1 | lethal mutation | spondyloepiphyseal dysplasia | GENE | DISEASE | GENETICS & HEREDITY | SPECTRUM | EXPRESSION | SIRT1 | Phenotypes | Dysplasia | Collagen (type II) | Abnormalities | Chains | Hypochondrogenesis | Gene sequencing | Proteins | Biomedical materials | Missense mutation | Annotations | Biocompatibility | Mutation | Osteochondrodysplasia
Journal Article
Case Reports in Ophthalmology, ISSN 1663-2699, 02/2018, Volume 9, Issue 1, pp. 144 - 148
A 13-year-old Japanese female diagnosed with spondyloepiphyseal dysplasia congenita (SEDC) was referred for ophthalmologic evaluation. Examination with... 
Case Report | Corneal opacity | Anterior segment optical coherence tomography | Spondyloepiphyseal dysplasia congenital | Spondyloepiphyseal dysplasia congenita
Journal Article
Molecular Syndromology, ISSN 1661-8769, 01/2019, Volume 9, Issue 5, pp. 241 - 246
A boy and his father with severe short stature, progressively evolving body asymmetry, and skeletal abnormalities are presented. A next-generation sequencing... 
Novel Insights from Clinical Practice | Short stature | Skeletal disorders | Children | Spondyloepiphyseal dysplasia
Journal Article
Joint Bone Spine, ISSN 1297-319X, 2013, Volume 81, Issue 1, pp. 86 - 89
Journal Article