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

Volumn 155, Issue 9, 2011, Pages 2131-2136

  Shen, Wenjing ^a   Han, Dong ^a   Zhang, Jin ^a   Zhao, Hongshan ^b   Feng, Hailan ^a  

^a PEKING UNIVERSITY SCHOOL AND HOSPITAL OF STOMATOLOGY   (China)

^b PEKING UNIVERSITY HEALTH SCIENCE CENTER   (China)

Author keywords

Ellis van Creveld syndrome; EVC; EVC2; Mutation; Weyers acrofacial dysostosis

Indexed keywords

GENOMIC DNA;

ARTICLE; CASE REPORT; CHILD; CHINESE; CONTROLLED STUDY; DISEASE SEVERITY; DYSOSTOSIS; ELLIS VAN CREVELD SYNDROME; EVC GENE; EVC2 GENE; EXON SKIPPING; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HYPODONTIA; INHERITANCE; KNEE DISEASE; MOUTH EXAMINATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHYSICAL EXAMINATION; POLYDACTYLY; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SHORT STATURE; THORAX RADIOGRAPHY; WEYERS ACROFACIAL DYSOSTOSIS;

ABNORMALITIES, MULTIPLE; ANODONTIA; BASE SEQUENCE; CHILD; CHINA; CHROMOSOME DISORDERS; DNA MUTATIONAL ANALYSIS; ELLIS-VAN CREVELD SYNDROME; FEMALE; GENETIC TESTING; HETEROZYGOTE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MUTATION; POLYDACTYLY; PROTEINS; SEQUENCE ANALYSIS, DNA; TOOTH ABNORMALITIES;

EID: 84860404078     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34125     Document Type: Article

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