Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;32)]
Journal Article
·
· American Journal of Medical Genetics
- Universita di Cagliari (Italy)
This paper reports a further case of blepharophimosis, ptosis, epicanthus inversus (BPES) syndrome associated with a reciprocal translocation [46,XY,t(3;7)(q23;32)], involving band 3q23. This case supports the assignment of a BPES gene(s) to the 3q23 region. 15 refs., 2 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 56829
- Journal Information:
- American Journal of Medical Genetics, Vol. 51, Issue 3; Other Information: PBD: 1 Jul 1994
- Country of Publication:
- United States
- Language:
- English
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