Autosomal Dominant Postaxial Polydactyly, Nail Dystrophy, and Dental Abnormalities Map to Chromosome 4p16, in the Region Containing the Ellis–van Creveld Syndrome Locus
- 1 December 1997
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 61 (6), 1405-1412
- https://doi.org/10.1086/301643
Abstract
No abstract availableKeywords
This publication has 41 references indexed in Scilit:
- The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16Genomics, 1996
- A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasiaNature Genetics, 1995
- Symptomatic heterozygosity in the Ellis‐van Creveld syndrome?Clinical Genetics, 1995
- Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3Nature Genetics, 1995
- Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone.Journal of Clinical Investigation, 1994
- Postaxial polydactyly as heterozygote manifestation in Ellis‐Van Creveld syndrome?American Journal of Medical Genetics, 1991
- Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagenHuman Genetics, 1991
- Weyers acrodental dysostosis in a familyClinical Genetics, 1984
- Curry-Hall syndromeAmerican Journal of Medical Genetics, 1984
- Über eine korrelierte Mißbildung der Kiefer- und ExtremitätenakrenRöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren, 1952