Key references: Cause of fragile X syndrome

Birch RC, Cohen J, Trollor JN. Fragile X-associated disorders: Don’t miss them. Aust Fam Physician 2017;46(7):487–91. https://www.ncbi.nlm.nih.gov/pubmed/28697292
Chonchaiya W, Schneider A, Hagerman RJ. Fragile X: a family of disorders. Adv Pediatr 2009;56:165–86. https://www.ncbi.nlm.nih.gov/pubmed/19968948
Hagerman RJ, Protic D, Rajaratnam A, Salcedo-Arellano MJ, Aydin EY, Schneider A. Fragile X-Associated Neuropsychiatric Disorders (FXAND). Front Psychiatry 2018;9:564. https://www.ncbi.nlm.nih.gov/pubmed/30483160
McKechanie AG, Barnicoat A, Trender-Gerhard I, Allison M, Stanfield AC. Fragile X-associated conditions: implications for the whole family. Br J Gen Pract 2019;69(686):460–1. https://www.ncbi.nlm.nih.gov/pubmed/31467024
National Fragile X Foundation (NFXF). Consensus documents on treatments and interventions for fragile X [online resource]. McLean, VA: NFXF; Accessed June 2019. https://fragilex.org/our-research/nfxf/treatment-guidelines/
National Fragile X Foundation (NFXF). Fragile X-associated primary ovarian insufficiency syndrome (FXPOI). NFXF; 2011 (Updated 2018). https://fragilex.org/our-research/nfxf/treatment-guidelines/
National Fragile X Foundation (NFXF). Fragile X-associated tremor/ataxia syndrome (FXTAS). NFXF; 2011 (Updated 2018). https://fragilex.org/our-research/nfxf/treatment-guidelines/
Nolin SL, Brown WT, Glicksman A, Houck GE, Gargano AD, Sullivan A, et al. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 2003;72(2):454–64. https://www.ncbi.nlm.nih.gov/pubmed/12529854
Nolin SL, Glicksman A, Ersalesi N, Dobkin C, Brown WT, Cao R, et al. Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers. Genet Med 2015;17(5):358–64. https://www.ncbi.nlm.nih.gov/pubmed/25210937