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

Kristen Lord

Kristen Lord

Kristen is a junior and soon to be senior at Christopher Newport University. She has an Associate’s Degree in graphic design, and is working toward her Bachelors in Fine Arts focusing in graphic design. Kristen has a passion for animals and art, and in her spare time likes to paint, or design on the computer as well as playing with her dog Mr. Pickles. Kristen is happy to be moving on to a new chapter of her life soon, getting married at the end of May 2016 and graduating in April 2017.

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