Symptomatic heterozygosity in the Ellis-van Creveld syndrome?
作者信息
Spranger S, Tariverdian G
机构信息
Institute of Human Genetics and Anthropology, University of Heidelberg, Germany.
出版信息
Clin Genet. 1995 Apr;47(4):217-20. doi: 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.
摘要
Zotero 插件