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Gene mutation leads to poorly understood birth defects

Scientists have identified genetic mutations that appear to be a key culprit behind a suite of birth defects called ciliopathies, which affect an estimated 1 in 1,000 births. In a paper published online this week in Nature Genetics, a team of researchers led by The University of Texas at Austin’s John Wallingford reveals that these mutations prevent certain proteins from working together to smooth the way for cells to communicate with one another.

Cilia
Cilia.
Credit:John Wallingford