Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in ellis-van Creveld syndrome with borderline intelligence

Human Mutation

Volumn 29, Issue 7, 2008, Pages 931-938

  Temtamy, Samia A ^a   Aglan, Mona S ^a   Valencia, Maria ^b   Cocchi, Guido ^c   Pacheco, Maria ^b   Ashour, Adel M ^a   Amr, Khalda S ^a   Helmy, Sanaa M H ^a   El Gammal, Mona A ^a   Wright, Michael ^e   Lapunzina, Pablo ^d   Goodship, Judith A ^e   Ruiz Perez, Victor L ^b  

^a NATIONAL RESEARCH CENTRE   (Egypt)

^b CSIC   (Spain)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

4p16.1 deletion; Ellis van Creveld syndrome; EVC; EVC2; LINE 1 retrotransposons

Indexed keywords

DNA; LONG INTERSPERSED NUCLEAR ELEMENT 1 PROTEIN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; C4ORF6 GENE; CASE REPORT; CHILD; CHROMOSOME 4P; CONSANGUINITY; ELLIS VAN CREVELD SYNDROME; ETHNIC DIFFERENCE; EVC GENE; EVC2 GENE; FEMALE; GENE; GENE DELETION; GENE INACTIVATION; GENE REARRANGEMENT; GENETIC RECOMBINATION; HETEROZYGOTE; HOMOLOGOUS RECOMBINATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INTELLIGENCE; LONG INTERSPERSED REPEAT; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; STK32B GENE;

ADOLESCENT; ADULT; CHILD; ELLIS-VAN CREVELD SYNDROME; FEMALE; GENE DELETION; GENOME, HUMAN; HUMANS; LONG INTERSPERSED NUCLEOTIDE ELEMENTS; MALE; MENTAL RETARDATION; PROTEINS;

EID: 46749104796     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20778     Document Type: Article

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