Mutations in TFAP2B and Char Syndrome

You’re probably thinking “Yes, I would like to know what that causes… but first of all, what the heck is TFAP2B?”

TFAP2B is a gene that has a hand in the development of the heart, face and limbs. Therefore mutations in that gene interrupt the development of these, causing a condition called Char Syndrome. Those born with Char Syndrome may have a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities.

Here are some links to find out more:
News Medical
U.S. National Library of Medicine
My 46
NCBI