Article
Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.
American journal of medical genetics. Part A - 1 Sept 2011
Shen Wenjing, Han Dong, Zhang Jin, Zhao Hongshan, Feng Hailan
Abstract excerpt
Ellis-van Creveld syndrome (EvC, chondroectodermal dysplasia; OMIM 225500) is an autosomal recessive skeletal dysplasia with associated multisystem involvement. The syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, and abnormal teeth. Congenital heart defects occur in 50-60% of cases. In this study, we report EvC in a 6-year-old Chinese girl with hypodontia and...
Topics
- Abnormalities, Multiple
- Anodontia
- Base Sequence
- Child
- China
- Chromosome Disorders
- DNA Mutational Analysis
- Ellis-Van Creveld Syndrome
- Female
- Genetic Testing
- Heterozygote
- Humans
- Intercellular Signaling Peptides and Proteins
- Limb Deformities, Congenital