Symptomatic heterozygosity in the Ellis-van Creveld syndrome?
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1995.tb03963.x/fullpdf
Reference10 articles.
1. Polydactyly, conical teeth, nail dysplasia and short limbs: a new autosomal dominant malformation syndrome;Curry;Birth Defects Orig Art Ser,1979
2. Report of 15 cases in an inbred kindred;Silva;J Med Genet,1980
3. Syndrome characterized by ectodermal dysplasia, polydactyly, chondrodysplasia and congenital morbus cordis;Ellis;Arch Dis Child,1940
4. Postaxial polydactyly as heterozygote manifestation in Ellis-van Creveld syndrome;Fryns;Am J Med Genet,1991
5. Ellis-van Creveld syndrome in a western Australian Aboriginal community. Postaxial polydactyly as a heterozygous manifestation;Goldblatt;Med J Aust,1992
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1. Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions;Genetics in Medicine Open;2023
2. Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals;Journal of Medical Genetics;2022-08-04
3. Bibliography;Dento/Oro/Craniofacial Anomalies and Genetics;2012
4. Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations;European Journal of Human Genetics;2010-01-20
5. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2009-11-15
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