Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33446/fullpdf
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3. Clinical features of boys with fragile X premutations and intermediate alleles;Aziz;Am J Med Genet Part B,2003
4. Fragile X-associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines;Berry-Kravis;Mov Disord,2007
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2. Epigenetic dysregulation in the fragile X-related disorders;Chromatin Signaling and Neurological Disorders;2019
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4. Transmission of double FMR1 allelic premutations in a family;Genes & Genomics;2016-12-27
5. Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele;The Cerebellum;2016-06-17
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