Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease
- 2 October 2000
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 94 (4) , 287-295
- https://doi.org/10.1002/1096-8628(20001002)94:4<287::aid-ajmg5>3.0.co;2-g
Abstract
No abstract availableKeywords
This publication has 30 references indexed in Scilit:
- Kyphomelic dysplasia in two sib fetuses.Journal of Medical Genetics, 1998
- Heterogeneity in Schwartz-Jampel chondrodystrophic myotoniaEuropean Journal of Pediatrics, 1997
- Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM intervalHuman Genetics, 1996
- Kyphomelic dysplasia.Journal of Medical Genetics, 1994
- Kyphomelic dysplasia: the first 10 cases.Journal of Medical Genetics, 1990
- Kyphomelic dysplasia.Journal of Medical Genetics, 1989
- A new skeletal dysplasia: Clinical, radiologic, and pathologic findingsThe Journal of Pediatrics, 1986
- Skeletal dysplasia with short, angulated femora (kyphomelic dysplasia)American Journal of Medical Genetics, 1983
- The Antley-Bixler syndromeThe Journal of Pediatrics, 1982
- Schwartz-Jampel syndrome in two daughters of first cousins.Journal of Neurology, Neurosurgery & Psychiatry, 1978