Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2016204.pdf
Reference48 articles.
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2. Tranfaglia MR : The psychiatric presentation of fragile x: evolution of the diagnosis and treatment of the psychiatric comorbidities of fragile X syndrome. Dev Neurosci 2011; 33: 337–348.
3. Hagerman RJ, Amiri K, Cronister A : Fragile X checklist. Am J Med Genet 1991; 38: 283–287.
4. Rauch A, Hoyer J, Guth S et al: Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A 2006; 140: 2063–2074.
5. Bassell GJ, Warren ST : Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron 2008; 60: 201–214.
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