Scientific Publication 

Novel X-linked Syndrome Identified

Author(s): Tripolszki, Kornelia

Defects in many X-chromosomal genes are known to cause neurodevelopmental problems in males. A further example was recently identified at CENTOGENE when conducting an depth investigation of 13 affected males from a multi-generational family. This revealed OTUD5 as a novel gene associated with an X-chromosomal neurological disease. The findings were published in Clinical Genetics.

Defects in many X-chromosomal genes are known to cause neurodevelopmental problems in males. A further example was recently identified at CENTOGENE when conducting an depth investigation of 13 affected males from a multi-generational family. This revealed OTUD5 as a novel gene associated with an X-chromosomal neurological disease. The findings were published in Clinical Genetics.


Read publication