A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2
Open Access
- 26 August 2019
- journal article
- research article
- Published by Springer Nature in Human Genome Variation
- Vol. 6 (1) , 1-4
Abstract
Ellis-van Creveld syndrome (EvC MIM. #225500) is an autosomal recessive skeletal dysplasia characterised by thoracic hypoplasia, cardiac anomalies, acromesomelic limb shortening, and postaxial polydactyly. Affected individuals commonly manifest with cardiorespiratory failure as neonates but generally survive neonatal difficulties. We report here on affected Japanese sibs with a lethal phenotype of EvC caused by novel compound heterozygous mutations of EVC2, c.871-3 C > G and c.1991dupA.Keywords
Funding Information
- Japan Agency for Medical Research and Development (18ek0109301)
- MEXT | Japan Society for the Promotion of Science (17K10069)
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