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Diagnosis of Rett syndrome: can a radiograph help?

โœ Scribed by E J. Glasson; C. Bower; M K. Thomson; S. Fyfe; S. Leonard; J. Christodoulou; C. Fllaway; H. Leonard; E. Rousham

Book ID
111128804
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
617 KB
Volume
40
Category
Article
ISSN
0012-1622

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Since 1999, many laboratories have confirmed that mutations in the MECP2 gene are the primary cause of Rett syndrome (RTT or RS) and identified mutations in 70 to 90% of the sporadically affected girls. Most of the screenings are PCR-based and restricted to the coding part of the gene and therefore