An Oxford-led team of researchers has become the first to discover a genetic mutation which can lead to severe facial disfigurement.
The mutation, known as ALX3, was discovered after researchers compared the DNA of individuals from seven families who all shared a similar facial malformation known as ‘frontorhiny’.
Head researcher Professor Andrew Wilkie said, “This finding offers hope to those families considered to be at risk. By correctly diagnosing the condition in an adult, we can reassure them that their children are unlikely to be affected.”
