Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).

Author:

Wolstenholme J,Brown J,Masters K G,Wright C,English C J

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference11 articles.

1. Further evidence for the location of the BPES gene at 3q2;CEM, De Die-Smulders; JJM, Engelen; JM, Donk; JP, Fryns;J Med Genet,1991

2. Blepharophimosis sequence and de novo balanced autosomal translocation [46, XY, t(3; 4)(q23; pl5. 2)]: possible assignment of the trait to 3q23;Fukushima, Y.; Wakui, K.; Nishida, T.; Ueoka, Y.;Am J Med Genet,1991

3. Another example favouring the location of BPES at 3q2;de Almeida JC, Cabral; JC, Llerena; JBG, Neto; M, Jung; RR, Martins;J Med Genet,1993

4. Boy with a chromosome del(3)(q12q23) and blepharophimosis syndrome;Fujita, H.; Meng, J.; Kawamura, M.; Tozuka, N.; Ishii, F.; Tanaka, N.;Am J Med Genet,1992

5. Interstitial deletion of chromosome 3: case report, review, and definition of phenotype;Alvarado, M.; Bocian, M.; Walker, A.P.;Am J Med Genet,1987

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