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    Trichothiodystrophy with Dysmyelination and Central Osteosclerosis | American Journal of Neuroradiology  
    

















    





























    
  
  




    
    

  

      


    

      

  
  
  

    

  

    

  

                
    

      

  

    

  
      
  
  

    


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Case ReportPediatrics

  
      

  
      
Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
  
    	
J.H. Harreld, E.C. Smith, N.S. Prose, P.K. Puri and D.P. Barboriak

  
    	
American Journal of Neuroradiology January 2010,  31 (1) 129-130; DOI: https://doi.org/10.3174/ajnr.A1665 

  
  
  



  


  
  



			

		

	
	
 	
	  
  

		
		

			

			  

  
      
  
  

    
  


  
  



  
      
  
  

    

  

    

  
      
  
  

    
References
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    1. Faghri  S, 
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    3. Kraemer  KH, 
    4. et al
    . Trichothiodystrophy: a systematic review of 112 published cases characterizes a wide spectrum of clinical manifestations. J Med Genet 2008; 45: 609–21
    Abstract/FREE Full Text
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    1. Porto  L, 
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    1. Botta  E, 
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    3. Orioli  D, 
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    . Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene. Hum Mutat 2008; 0: 1–8
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    1. Kleijer  WJ, 
    2. Laugel  V, 
    3. Berneberg  M, 
    4. et al
    . Incidence of DNA repair deficiency disorders in western Europe: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. DNA Repair (Amst) 2008; 7: 744–50. Epub 2008 Mar 10
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    1. Liang  C, 
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    3. Schlucker  S, 
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    1. Itin  PH, 
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    1. Civitkelli  R, 
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    3. Teitelbaum  SL, 
    4. et al
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    1. McCuaig  C, 
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    PubMed
  


  
  



  




  


  
  



  
      
  
  

    
  


  
  



  
      
  
  

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Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
  
    	
J.H. Harreld, E.C. Smith, N.S. Prose, P.K. Puri, D.P. Barboriak

  
    	
American Journal of Neuroradiology Jan 2010, 31 (1) 129-130; DOI: 10.3174/ajnr.A1665 

  
  
  



  


  
  



  
      
  
  

    

  
    
  
  
    
  
  
    
  


  


  
  



  
      
  
  

    
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