Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: A balanced (21;22)(p12;q11) translocation

Human Molecular Genetics

Volumn 6, Issue 3, 1997, Pages 357-367

  Holmes, Susan E ^a   Riazi, M Ali ^b   Gong, Weilong ^a   McDermid, Heather E ^b   Sellinger, Beatrice T ^a   Hua, Axin ^c   Chen, Feng ^c   Wang, Zhili ^c   Zhang, Guozhang ^c   Roe, Bruce ^c   Gonzalez, Iris ^d   McDonald McGinn, Donna M ^a   Zackai, Elaine ^a,e   Emanuel, Beverly S ^a,e   Budarf, Marcia L ^a,e  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF ALBERTA   (Canada)

^c UNIVERSITY OF OKLAHOMA   (United States)

^d NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLATHRIN; REPETITIVE DNA; RIBOSOME DNA;

ARTICLE; CASE REPORT; CHROMOSOME 21P; CHROMOSOME 22Q; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; DIGEORGE SYNDROME; DNA TRANSCRIPTION; FACE DYSMORPHIA; FINGER MALFORMATION; GENE DISRUPTION; GENITAL MALFORMATION; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; MOLECULAR CLONING; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CELLS, CULTURED; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 22; CLATHRIN; CLATHRIN HEAVY CHAINS; CLONING, MOLECULAR; CRANIOFACIAL ABNORMALITIES; DIGEORGE SYNDROME; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MOLECULAR SEQUENCE DATA; SYNDROME; TRANSLOCATION, GENETIC;

EID: 8044250300     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.3.357     Document Type: Article

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