New York woman honors son with first U.S. nonprofit for rare disease
After a long series of tests and doctors visits, the Dyers were given unimaginable news: Ronin was born with a rare disorder ...
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Mechanisms of Disease: DNA Repair Defects and Neurological Disease
Five of the conditions (xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Down syndrome, and triple-A syndrome) display a defect in the nucleotide excision repair pathway ...