Discovered gene causes Kabuki syndrome
NHGRI-supported researchers streamline DNA sequencing strategies to find rare disease genes quickly
17-Aug-2010 -
Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation. Instead of sequencing the entire human genome, the new approach ...
biology
birth defects
chromatin
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