Article
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.
American journal of medical genetics. Part A - 1 Sept 2016
Halbach Nicky, Smeets Eric E, Julu Peter, Witt-Engerström Ingegerd, Pini Giorgio, Bigoni Stefania, Hansen Stig, Apartopoulos Flora, Delamont Robert, van Roozendaal Kees, Scusa Maria F, Borelli Paolo, Candel Math, Curfs Leopold
Abstract excerpt
Many studies have attempted to establish the genotype-phenotype correlation in Rett syndrome (RTT). Cardiorespiratory measurements provide robust objective data, to correlate with each of the different clinical phenotypes. It has important implications for the management and treatment of this syndrome. The aim of this study was to correlate the genotype with the quantitative cardiorespiratory data obtained by...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.