HOUSTON – (May 1, 2014) -- A team of researchers led by Baylor College of Medicine have identified the gene underlying a newly recognized genetic syndrome that has symptoms of sleep apnea, delayed speech and hyptonia, or generalized upper body weakness.
The study published online today in the American Journal of Human Genetics.
The Baylor researchers first studied a patient from Australia with these symptoms who had been seen by many doctors and had multiple diagnostic tests, without any diagnosis.