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Table of Content Volume 10 Issue 1 - April 2019



Molecular or clinical diagnosis of RTT syndrome?

 

Khandare V J*, Usha Dave**, Muralidhar Mahajan***

 

*Associate Professor, Department of Anatomy, GMERS Medical College Valsad, Gujarat, INDIA.

**Director, ***Clinical Geneticist and Paediatrician, MILS Goregaon, Mumbai, Maharashtra, INDIA.

Email: vilasjkhandare@yahoo.com

 

REFERENCES

  1. Omim.org. (2018). OMIM Clinical Synopsis - #312750 - RETT SYNDROME; 
  2. Jellinger KA. Rett Syndrome- an update. J Neural Transm, 2003; 110:681-701.
  3. Jeffrey L Neul, Walter E. Kaufmann and Alan K. Percy. Rett Syndrome: Revised Diagnostic Criteria and Nomenclature. Ann Neurol, 2010 Dec; 68(6): 944-950
  4. Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., Zoghbi, H. Y. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genet., 1999;23: 185-188.
  5. Zappela M. The Rett girls with preserved speech. Brain Dev.1992; 14: 98-101.

 
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