Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature
Author:
Funder
Faculty of Medicine, Prince of Songkla University
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference66 articles.
1. Revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG);Spector;Genet. Med.,2021
2. Rare FMR1 gene mutations causing fragile X syndrome: a review;Sitzmann;Am. J. Med. Genet. a.,2018
3. Beyond trinucleotide repeat expansion in fragile X syndrome: rare coding and noncoding variants in FMR1 and associated phenotypes;Tekendo-Ngongang;Genes,2021
4. Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature;Coffee;Am. J. Med. Genet. A,2008
5. Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region;Erbs;Eur. J. Med. Genet.,2021
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