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2 unusual facts about CHARGE syndrome


CHARGE syndrome

In 2004, mutations on the CHD7 gene (located on Chromosome 8) were found in 10 of 17 patients in a study conducted in the Netherlands, making CHARGE an official syndrome.

Most recently, a review of 379 published cases of clinically diagnosed cases of CHARGE syndrome in which CHD7 mutation testing was undertaken found that 67% of cases were due to a CHD7 mutation.



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