Literature DB >> 15386473

No evidence of SALL4-mutations in isolated sporadic duane retraction "syndrome" (DURS).

B K Wabbels, B Lorenz, J Kohlhase.   

Abstract

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Year:  2004        PMID： 15386473     DOI： 10.1002/ajmg.a.30321

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

1.  Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.

Authors:  Elizabeth C Engle; Caroline Andrews; Krystal Law; Joseph L Demer
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-01       Impact factor: 4.799

2.  CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.

Authors:  Noriko Miyake; Caroline Andrews; Wen Fan; Wei He; Wai-Man Chan; Elizabeth C Engle
Journal:  Am J Med Genet A       Date:  2010-01       Impact factor: 2.802

3.  Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3).

Authors:  Arif O Khan; Jameela Shinwari; Nada Abu Dhaim; Dania Khalil; Latifa Al Sharif; Nada Al Tassan
Journal:  Mol Vis       Date:  2011-04-19       Impact factor: 2.367

4.  Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome.

Authors:  Joseph L Demer; Robert A Clark; Key Hwan Lim; Elizabeth C Engle
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-12       Impact factor: 4.799

5.  Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.

Authors:  Ming-ming Yang; Mary Ho; Henry H W Lau; Pancy O S Tam; Alvin L Young; Chi Pui Pang; Wilson W K Yip; LiJia Chen
Journal:  Mol Vis       Date:  2013-05-06       Impact factor: 2.367

Review 6.  Strabismus genetics across a spectrum of eye misalignment disorders.

Authors:  X C Ye; V Pegado; M S Patel; W W Wasserman
Journal:  Clin Genet       Date:  2014-03-26       Impact factor: 4.438
  6 in total

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