Literature DB >> 5568616

Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus--a syndrome with no name.

R Kohn, P E Romano.   

Abstract

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Year:  1971        PMID： 5568616     DOI： 10.1016/0002-9394(71)90864-6

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


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  8 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

2.  Blepharophimosis and its association with female infertility.

Authors:  C A Jones; J R Collin
Journal:  Br J Ophthalmol       Date:  1984-08       Impact factor: 4.638

3.  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

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

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

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

Authors:  A Smith; I S Fraser; R P Shearman; P Russell
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318

6.  Successful anesthetic management of a child with blepharophimosis syndrome and atrial septal defect for reconstructive ocular surgery.

Authors:  Dalim Kumar Baidya; Puneet Khanna; Anil Kumar; Dilip Shende
Journal:  J Anaesthesiol Clin Pharmacol       Date:  2011-10

7.  Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II.

Authors:  Alireza Haghighi; Hannah Verdin; Hamidreza Haghighi-Kakhki; Niloofar Piri; Nasrollah Saleh Gohari; Elfride De Baere
Journal:  Mol Vis       Date:  2012-01-26       Impact factor: 2.367

8.  Frydman-Cohen-Karmon syndrome: a rare syndromic association of blepharophimosis.

Authors:  Rachna Meel; Nikitha Ayyadurai; Sahil Agrawal; Deepsekhar Das
Journal:  BMJ Case Rep       Date:  2020-06-29
  8 in total

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