Researchers discover rare genetic disorder that affects the brain, heart and facial features – News-Medical.net

Researchers at the National Institutes of Health have discovered a new genetic disorder characterized by developmental delays and malformations of the brain, heart and facial features. Named linkage-specific-deubiquitylation-deficiency-induced embryonic defects syndrome (LINKED), it is caused by a mutated version of the OTUD5 gene, which interferes with key molecular steps in embryo development.
The findings indicate that the newly identified pathway may be essential for human development and may…

Click here to view the original article.