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Journal Article
Genetics in Medicine, ISSN 1098-3600, 06/2010, Volume 12, Issue 6, pp. 327 - 341
Journal Article
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
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 08/2012, Volume 160C, Issue 3, pp. 190 - 204
Journal Article
Paediatrics and Child Health, ISSN 1751-7222, 02/2018, Volume 28, Issue 2, pp. 84 - 92
Skeletal dysplasias are a large group of rare diseases, with over 400 distinct entities recognised. Diagnosis is challenging, largely reflecting the rareness... 
pseudoachondroplasia | next generation sequencing | radiology | achondroplasia | hypophosphatasia | osteochondrodysplasia | skeletal dysplasia | spondyloepiphyseal dysplasia congenita
Journal Article
Journal of Histochemistry & Cytochemistry, ISSN 0022-1554, 1/2015, Volume 63, Issue 1, pp. 32 - 44
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 01/2018, Volume 31, Issue 1, pp. 85 - 86
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 07/2016, Volume 24, Issue 7, pp. 992 - 1000
Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. We assessed the impact of this gene in our French... 
ALPHA-1(II) COLLAGEN CHAINS | SUBSTITUTION | MILD CHONDRODYSPLASIA | II COLLAGEN | GENOTYPE/PHENOTYPE CORRELATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | SPONDYLOEPIPHYSEAL DYSPLASIA | TRIPLE-HELIX | MUTATIONS | STICKLER-SYNDROME | CONGENITA
Journal Article
Journal Article