SYMPTOMATIC HETEROZYGOSITY IN THE ELLIS-VAN CREVELD SYNDROME

Authors
SPRANGER S TARIVERDIAN G
Citation
S. Spranger et G. Tariverdian, SYMPTOMATIC HETEROZYGOSITY IN THE ELLIS-VAN CREVELD SYNDROME, Clinical genetics, 47(4), 1995, pp. 217-220
Citations number
10
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
47
Issue
4
Year of publication
1995
Pages
217 - 220
Database
ISI
SICI code
0009-9163(1995)47:4<217:SHITEC>2.0.ZU;2-1
Abstract
A 13-month-old girl with Ellis-van Creveld syndrome and her mildly aff ected father are described. We discuss whether the father is a symptom atic heterozygote of the Ellis-van Creveld syndrome or an untypical af fected patient with Weyers' acrodental dysostosis.