Literature DB >> 14871335

What syndrome is this? Setleis syndrome.

Jason G Rosenberg1, Beth A Drolet.   

Abstract

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Year:  2004        PMID： 14871335     DOI： 10.1111/j.0736-8046.2004.21119.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN： 0736-8046            Impact factor:   1.588


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  2 in total

1.  A novel frameshift mutation in TWIST2 gene causing Setleis syndrome.

Authors:  Katta Mohan Girisha; Abdul Mueed Bidchol; Murali Keshava Sarpangala; Kapaettu Satyamoorthy
Journal:  Indian J Pediatr       Date:  2013-10-15       Impact factor: 1.967

2.  Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin.

Authors:  Hector L Franco; Jose J Casasnovas; Ruth G Leon; Robert Friesel; Yongchao Ge; Robert J Desnick; Carmen L Cadilla
Journal:  Int J Biochem Cell Biol       Date:  2011-07-27       Impact factor: 5.085
  2 in total

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