Ellis-Van Creveld Syndrome: Prenatal Diagnosis, Molecular Analysis and Genetic Counseling
Authors:
- Chih-Ping ChenCCChih-Ping Chen
- Yi-Ning SuYSYi-Ning Su
- Chin-Yuan HsuCHChin-Yuan Hsu
- Schu-Rern ChernSCSchu-Rern Chern
- Fuu-Jen TsaiFTFuu-Jen Tsai
- Pei-Chen WuPWPei-Chen Wu
- Po-Tsang ChenPCPo-Tsang Chen
- Wayseen WangWWWayseen Wang
- 1 December 2010
- journal article
- case report
- Published by Elsevier in Taiwanese Journal of Obstetrics and Gynecology
- Vol. 49 (4) , 481-486
Abstract
No abstract availableKeywords
This publication has 39 references indexed in Scilit:
- Ellis–van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia‐mediated diminished response to hedgehog ligandsAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2009
- Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte ciliaDevelopment, 2007
- Ellis-Van Creveld syndromeOrphanet Journal of Rare Diseases, 2007
- Meckel Syndrome: Genetics, Perinatal Findings, and Differential DiagnosisTaiwanese Journal of Obstetrics and Gynecology, 2007
- Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk populationBirth Defects Research Part A: Clinical and Molecular Teratology, 2003
- A new gene, EVC2, is mutated in Ellis–van Creveld syndromeMolecular Genetics and Metabolism, 2002
- Ellis-van Creveld syndrome and the AmishNature Genetics, 2000
- Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosisNature Genetics, 2000
- Birth prevalence rates of skeletal dysplasiasClinical Genetics, 1989
- Dandy‐Walker malformation in Ellis‐van Creveld syndromeAmerican Journal of Medical Genetics, 1988