24
Jan
Diagnosing Cat-Eye syndrome via ‘visual diagnosis’
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New research study ongoing directed by Dr. Thomas Liehr of the Jena Institute of Human Genetics in Jena, Germany to learn if diagnosing Cat-Eye syndrome via visual diagnosis is possible. In individuals with Cat-Eye syndrome, the short arm and a small region of the long arm of chromosome 22 (i.e.,... Read More
20
Jun
Phelan-McDermid Syndrome Patient Powered Research Network
This article discusses Phelan-McDermid Syndrome and the Patient Powered Research Network. Phelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder, with only about 1,400 cases reported. It is caused either by a 22q13 deletion – a region within the long arm of chromosome 22 – or a mutation within the SHANK3... Read More
