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- Sherman, S, et al. Fragile X syndrome: Diagnostic and carrier testing. ACMG Practice Guideline Genet Med 2005; 7(8):584–587.
- Maddalena, A, et al. Technical Standards and Guideline for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Genet Med 2001; 3(3):200–205.
- Carrier Screening for Fragile X syndrome. ACOG Committee Opinion, Number 469. October 2010.
- Dombrowski, C., et al. Premutation and intermediate-size FMR1 alleles in 10,572 males from the general population: loss of an AGG interruption is a late event in the generation of Fragile X syndrome alleles. Hum Mol Genet 2002; 11(4):371–378.