Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32

European Journal of Human Genetics

Volumn 11, Issue 7, 2003, Pages 527-534

  Ramocki, Melissa B ^a   Dowling, James ^b   Grinberg, Inessa ^a   Kimonis, Virginia E ^c   Cardoso, Carlos ^d   Gross, Alyssa ^a   Chung, June ^a   Martin, Christa Lese ^a   Ledbetter, David H ^a   Dobyns, William B ^a   Millen, Kathleen J ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d TIMONE HOSPITAL   (France)

Author keywords

CNS development; Corpus callosum agenesis; Periventricular nodular heterotopia; Translocation; Zn finger

Indexed keywords

ZINC FINGER PROTEIN;

ARTICLE; CASE REPORT; CHROMOSOME ARM; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION 2; CHROMOSOME TRANSLOCATION 9; COLOBOMA; CORPUS CALLOSUM AGENESIS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DISRUPTION; GENE FUSION; GENE REARRANGEMENT; GENOTYPE PHENOTYPE CORRELATION; HETEROTOPIA; HUMAN; IRIS COLOBOMA; KARYOTYPING; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 9; COLOBOMA; CORPUS CALLOSUM; FEMALE; HUMANS; SEQUENCE ANALYSIS, DNA; TRANSLOCATION, GENETIC; ZINC FINGERS;

EID: 10744223290     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200995     Document Type: Article

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