Another example favouring the location of BPES at 3q2.

作者信息

de Almeida J C, Llerena Júnior J C, Gonçalves Neto J B, Jung M, Martins R R

出版信息

J Med Genet. 1993 Jan;30(1):86. doi: 10.1136/jmg.30.1.86.

DOI:10.1136/jmg.30.1.86

PMID:8481195

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016250/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5bc/1016250/fb887b0cd71c/jmedgene00003-0101-a.jpg

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本文引用的文献

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome).

J Med Genet. 1988 Jan;25(1):47-51. doi: 10.1136/jmg.25.1.47.

Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype.

Am J Med Genet. 1987 Aug;27(4):781-6. doi: 10.1002/ajmg.1320270406.

Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome.

J Med Genet. 1989 Jul;26(7):434-8. doi: 10.1136/jmg.26.7.434.

Further evidence for the location of the BPES gene at 3q2.

J Med Genet. 1991 Oct;28(10):725. doi: 10.1136/jmg.28.10.725.

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