Transcriptome level analysis in Rett syndrome using human samples from different tissues
Author:
Funder
Meath Foundation
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13023-018-0857-8.pdf
Reference100 articles.
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3. Renieri A, Mari F, Mencarelli MA, Scala E, Ariani F, Longo I, et al. Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain and Development. 2009;31:208–16. https://doi.org/10.1016/j.braindev.2008.04.007 .
4. Takagi M, Sasaki G, Mitsui T, Honda M, Tanaka Y, Hasegawa T. A 2.0Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum. Eur J Med Genet. 2013;56:526–8. https://doi.org/10.1016/j.ejmg.2013.05.012 .
5. Hagberg B, Rasmussen P. “FORME FRUSTE” of RETT syndrome - a CASE report. Am J Med Genet. 1986;181:175–81.
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