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The First Report of Robinow Syndrome in Iran and Literature Review

Zohreh Kavehmanesh 1 and Ali Reza Shafiee 2 , *
Authors Information
1 Department of Pediatrics, Faculty of Medicine, Baqiyatallah University of Medical Sciences, Tehran, Iran
2 Student Research Committee, Baqiyatallah University of Medical Sciences, Tehran, IR Iran
Article information
  • Thrita: December 20, 2013, 2 (4); 84-6
  • Published Online: November 10, 2013
  • Article Type: Case Report
  • Received: May 3, 2013
  • Revised: June 14, 2013
  • Accepted: September 30, 2013
  • DOI: 10.5812/thrita.11928

To Cite: Kavehmanesh Z, Shafiee A R. The First Report of Robinow Syndrome in Iran and Literature Review, Thrita. 2013 ;2(4):84-6. doi: 10.5812/thrita.11928.

Abstract
Copyright © 2013, Thrita. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Introduction
2. Case Presentation
3. Discussion
Acknowledgements
Footnotes
References
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  • 2. Robinow M, Silverman FN, Smith HD. A newly recognized dwarfing syndrome. Am J Dis Child. 1969; 117(6): 645-51[PubMed]
  • 3. Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, et al. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet. 2000; 25(4): 419-22[DOI][PubMed]
  • 4. Soliman AT, Rajab A, Alsalmi I, Bedair SM. Recessive Robinow syndrome: with emphasis on endocrine functions. Metabolism. 1998; 47(11): 1337-43[PubMed]
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  • 9. Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, et al. Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. Am J Med Genet A. 2008; 146A(21): 2804-9[DOI][PubMed]
  • 10. Chen Y, Bellamy WP, Seabra MC, Field MC, Ali BR. ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome. Hum Mol Genet. 2005; 14(17): 2559-69[DOI][PubMed]
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  • 15. Olivieri C, Maraschio P, Caselli D, Martini C, Beluffi G, Maserati E, et al. Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. Eur J Pediatr. 2003; 162(2): 100-3[DOI][PubMed]
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