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Rett syndrome: Some comments on terminology and diagnosis

โœ Scribed by Opitz, John M. ;Opitz, John M. ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1986
Tongue
English
Weight
617 KB
Volume
25
Category
Article
ISSN
0148-7299

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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