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Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].
- Source :
-
American journal of medical genetics [Am J Med Genet] 1994 Jul 01; Vol. 51 (3), pp. 258-9. - Publication Year :
- 1994
-
Abstract
- This paper reports a further case of blepharophimosis, ptosis, epicanthus inversus (BPES) syndrome associated with a reciprocal translocation [46,XY,t(3;7)(q23;q32)], involving band 3q23. This case supports the assignment of a BPES gene(s) to the 3q23 region.
Details
- Language :
- English
- ISSN :
- 0148-7299
- Volume :
- 51
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 8074155
- Full Text :
- https://doi.org/10.1002/ajmg.1320510317