Tag Archives: Congenital

Newly ID’d MECP2 Gene Mutation Linked to Congenital Rett Syndrome | Researchers Urge Testing for Respiration Issues in Such Circumstances

A new mutation has been found in the MECP2 gene — associated with most Rett syndrome cases — in a toddler with clinical features suggestive of congenital variant-like Rett syndrome, one of the most severe atypical forms of the disease. The child had hypercapnia, or high carbon dioxide levels in the bloodstream, but this occurred […]