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Symptomatic heterozygosity in the Ellis‐van Creveld syndrome?
Author(s) -
Spranger Stephanie,
Tariverdian Gholamali
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb03963.x
Subject(s) - heterozygote advantage , girl , medicine , compound heterozygosity , loss of heterozygosity , pediatrics , dermatology , genetics , biology , mutation , genotype , allele , gene
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.