Expansions in the FMR1 gene cause a family of disorders. Yet Fragile X-associated disorders are often under-recognised or misdiagnosed.
What should GPs and other health professionals be looking out for?
Fragile X-associated disorders: Don’t miss them, published in the July 2017 issue of Australian Family Physician, is very instructive.
Written by Dr Rachael Cvejic (nee Birch) and Prof Julian Trollor from the Department of Developmental Disability Neuropsychiatry at UNSW (Sydney) and Dr Jonathan Cohen from the Fragile X Alliance clinic.