Symptomatic heterozygosity in the Ellis‐van Creveld syndrome?
Authors:
- 23 April 1995
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 47 (4) , 217-220
Abstract
A 13‐month‐old girl with Ellis‐van Creveld syndrome and her mildly affected father are described. We discuss whether the father is a symptomatic heterozygote of the Ellis‐van Creveld syndrome or an untypical affected patient with Weyers' acrodental dysostosis.Keywords
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