A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.

Author:

Cai T,Tagle D A,Xia X,Yu P,He X X,Li L Y,Xia J H

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference49 articles.

1. Mendelian inheritance i71n mian;McKusick, V.A.,1992

2. Blepharophimosis-ptosisepicanthus inversus syndrome (BPES);Stromme, P.; Sandboe, F.;Acta Ophthalmol Scand,1996

3. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types;Zlotogora, J.; Sagi, M.; Cohen, T.;Arn _Hunz Genet,1983

4. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome);Oley, C.; Baraitser, M.;_7 Med Genet,1988

5. Ueoka Y Blepharophimosis sequence and de novo balanced autosomal translocation [46, XY, t(3; 4)(q23; p 15.2)]: possible assignment of the trait to 3q23;Fukushima, Y.; Wakui, K.; Nishida, T.;Am Med Genet,1991

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