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Rett syndrome: clinical correlates of the newly discovered gene

✍ Scribed by Alan K Percy


Book ID
117545563
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
139 KB
Volume
23
Category
Article
ISSN
0387-7604

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Gross rearrangements in the MECP2 gene i
✍ E. Schollen; E. Smeets; E. Deflem; J.P. Fryns; G. Matthijs πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 162 KB πŸ‘ 1 views

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