International nomenclature and classification of the osteochondrodysplasias (1997)
- 12 October 1998
- journal article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 79 (5), 376-382
- https://doi.org/10.1002/(sici)1096-8628(19981012)79:5<376::aid-ajmg9>3.0.co;2-h
Abstract
No abstract availableThis publication has 16 references indexed in Scilit:
- Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75 → cysteine mutation in the procollagen type ii gene in a kindred of chiloe islanders.Arthritis & Rheumatism, 1994
- Mesomelic limb shortness: A previously unreported autosomal recessive typeAmerican Journal of Medical Genetics, 1993
- Mesomelic dysplasia of the upper extremities associated with other abnormalities: A new syndrome?Pediatric Radiology, 1993
- Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagenAmerican Journal of Medical Genetics, 1990
- Possible heterogeneity in spondyloenchondrodysplasia: Quadriparesis, basal ganglia calcifications, and chondrocyte inclusionsAmerican Journal of Medical Genetics, 1990
- Dappled diaphyseal dysplasiasRöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren, 1989
- Osteogenesis imperfecta with unusual skeletal lesions: Report of three familiesAmerican Journal of Medical Genetics, 1985
- Namaqualand hip dysplasia: An autosomal dominant entityAmerican Journal of Medical Genetics, 1984
- Melnick‐Needles syndrome: Indication for an autosomal recessive formAmerican Journal of Medical Genetics, 1982
- Axial osteomalaciaAmerican Journal Of Medicine, 1981