A new gene, EVC2, is mutated in Ellis-van Creveld syndrome

Molecular Genetics and Metabolism

Volumn 77, Issue 4, 2002, Pages 291-295

  Galdzicka, M ^a   Patnala, S ^a   Hirshman, M G ^a   Cai, J F ^a   Nitowsky, H ^b   A Egeland, J ^a,c   Ginns, Edward I ^a  

^a UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Atrial septal defect; Bone abnormalities; Chromosome 4p16; Dwarfism; Ectodermal dysplasia; Ellis van Creveld; EvC; EVC2; Genes in development; Mendelian inheritance; Mutation detection

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 4P; DNA ISOLATION; ELLIS VAN CREVELD SYNDROME; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY;

ELLIS-VAN CREVELD SYNDROME; FEMALE; GENETIC HETEROGENEITY; HUMANS; JEWS; MALE; PEDIGREE; PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 0036928278     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(02)00178-6     Document Type: Article

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