Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)

Genomics

Volumn 65, Issue 1, 2000, Pages 67-69

  Praphanphoj, Verayuth ^a,b   Goodman, Barbara K ^a,b   Thomas, George H ^a,b   Niel, Kerry M ^c   Toomes, Carmel ^c   Dixon, Michael J ^c   Geraghty, Michael T ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLEPHAROPHIMOSIS; CASE REPORT; CHROMOSOME 21; CHROMOSOME 3; CHROMOSOME TRANSLOCATION; CRANIOFACIAL MALFORMATION; CYTOGENETICS; EPICANTHUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC DISORDER; HUMAN; PRIORITY JOURNAL; PTOSIS;

EID: 0034176655     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.2000.6157     Document Type: Article

References (8)

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