It’s a genetic detective story with a distinct 21st-century flavor. A geneticist from Cold Spring Harbor Laboratory (CSHL) has used powerful internet and social media tools to find doctors and researchers in nine U.S. states and eight other nations to help him confirm, document and describe in precise clinical detail a new genetic syndrome in young boys that he first came across five years ago.
Read the related story: Discovery of a new X-linked intellectual disability syndrome is aided by web communication tools