A genetic approach to the diagnosis of skeletal dysplasia

Clinical Orthopaedics and Related Research

Volumn 401, Issue , 2002, Pages 32-38

  Unger, Sheila ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BONE DYSPLASIA; BONE RADIOGRAPHY; CLINICAL EXAMINATION; CLINICAL FEATURE; CONFERENCE PAPER; DIAGNOSTIC ACCURACY; DIAGNOSTIC APPROACH ROUTE; DIFFERENTIAL DIAGNOSIS; FAMILY HISTORY; GENE MUTATION; GENETICS; HEIGHT; HUMAN; LABORATORY TEST; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECURRENT DISEASE;

EID: 0036338910     PISSN: 0009921X     EISSN: 15281132     Source Type: Journal    
DOI: 10.1097/00003086-200208000-00006     Document Type: Conference Paper

References (30)

1. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia
2. An allele of COL 9A2 associated with intervertebral disc disease
3. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
4. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia
5. A mutation in COL9A1 causes multiple epiphyseal dysplasia: Further evidence for locus heterogeneity
6. Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes
7. Medical complications of achondroplasia: A multicentre patient review
8. Fetal skeletal dysplasia: Three dimensional ultrasound: Initial experience
9. International classification of osteochondrodysplasias
10. International nomenclature and classification of the osteochondrodysplasias (1997)
11. Very Small Stature, Not Skeletal Dysplasia
12. Imaging of "iliac horns" in nail-patella syndrome
13. Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis
14. Pseudoachondroplasia
15. Identification of the molecular defect in a family with spondyloepiphyseal dysplasia
16. Cartilage-hair hypoplasia
17. Increased mortality in cartilage-hair hypoplasia
18. Natural history study of pseudoachondroplasia
19. A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)
20. COL9A3: A third locus for multiple epiphyseal dysplasia
21. Molecular defects in the chondrodysplasias
22. International nomenclature and classification of the osteochondrodysplasias (1997)
23. Chondrodysplasias
24. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 Novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance
25. Atelosteogenesis type II: Long term survival, prenatal diagnosis, and evidence for dominant transmission
26. The type II collagenopathies: A spectrum of chondrodysplasias
27. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation
28. Multiple epiphyseal dysplasia: Radiographic abnormalities correlated with genotype
29. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: The achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans
30. Early onset osteoarthritis linked to the type II procollagen gene: Detailed clinical phenotype and further analyses of the gene