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Ultrastructural study of enteric ganglia in three patients with Rett syndrome

โœ Scribed by Alessandro Malandrini; Giuseppe Hayek; Marcello Villanova; Anna Maria Aucone; Gianna Berti; Remo Vernillo; Michele Zappella; Gian Carlo Guazzi

Book ID
117545850
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
624 KB
Volume
20
Category
Article
ISSN
0387-7604

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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