Symptomatic heterozygosity in the Ellis‐van Creveld syndrome?
- 23 April 1995
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 47 (4) , 217-220
- https://doi.org/10.1111/j.1399-0004.1995.tb03963.x
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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