Literature DB >> 2769724

Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)

I K Temple1, M Baraitser.   

Abstract

Non-penetrance or minimal expression as a genetic counselling problem in the blepharophimosis syndrome is discussed.

Entities:  

Mesh：

Year:  1989        PMID： 2769724      PMCID： PMC1015674          DOI： 10.1136/jmg.26.8.517

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  2 in total

1.  The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types.

Authors:  J Zlotogora; M Sagi; T Cohen
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025

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

Authors:  C Oley; M Baraitser
Journal:  J Med Genet       Date:  1988-01       Impact factor: 6.318
  2 in total
  1 in total

Review 1.  A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.

Authors:  T Cai; D A Tagle; X Xia; P Yu; X X He; L Y Li; J H Xia
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318
  1 in total

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