Articles with tag

Results for mutation

Research HighlightMar 29, 2019

New overgrowth gene identified

A new overgrowth syndrome has been identified after finding a mutation that affects bone development

Research HighlightMar 29, 2019

SON mutation causes intellectual disability

A gene that encodes a DNA-binding protein causes an intellectual disability syndrome

Research HighlightDec 14, 2018

New model sheds light on metabolic alterations

A mouse model harbouring a genetic mutation common to Costello syndrome and some cancers helps clarify metabolic changes

Research HighlightOct 15, 2018

Outcomes of stem cell transplants in gene mutation patients

Stem cell transplants can cure some people with STAT1 mutations, but outcomes need to be improved