New Genetic Disorder Affects Brain and Craniofacial Skeleton by Angela Mohan on January 22, 2021 at 12:10 PM
New genetic disorder is characterized by developmental delays and malformations of the brain, heart and facial features. Named linkage-specific-deubiquitylation-deficiency-induced embryonic defects syndrome (LINKED), the disorder is caused by a mutated version of the OTUD5 gene, that affects the key molecular steps in embryo development.
The findings indicate that the newly identified pathway may be essential for human development and may also underlie other disorders that are present at birth. The information will help scientists better understand such diseases both common and rare and improve patient care. The results were reported in
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.
Researchers at the National Institutes of Health (NIH) have discovered a new genetic disorder characterized by developmental delays and malformations of the brain, heart, and facial features.