The diagnostic odyssey to Rett syndrome: The experience of an Australian family

The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.

Authors:

Knott, M.; Leonard, H.; Downs, J.

Authors notes:

American Journal of Medical Genetics, Part A. 2012;158 A(1):10-2

Keywords:

diagnosis, Rett Syndrome, China, Australia, pediatricians, health nurses

Abstract

The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation of the disorder is variable.