De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith –Magenis syndrome

ConclusionsTCF20 pathogenic variants are associated with a novel syndrome manifesting clinical characteristics similar to those observed in Smith –Magenis syndrome. Together with previously described cases, the clinical entity ofTCF20-associated neurodevelopmental disorders (TAND) emerges from a genotype-driven perspective.

http://link.springer.com/10.1186/s13073-019-0623-0

Source: Genome Medicine - February 28, 2019 Category: Genetics & Stem Cells Source Type: research