Article
Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.
Human molecular genetics - 1 Feb 2020
Chen Chun-An, Pal Rituraj, Yin Jiani, Tao Huifang, Amawi Abdallah, Sabo Aniko, Bainbridge Matthew N, Gibbs Richard A, Zoghbi Huda Y, Schaaf Christian P
Abstract excerpt
Autism spectrum disorders are associated with some degree of developmental regression in up to 30% of all cases. Rarely, however, is the regression so extreme that a developmentally advanced young child would lose almost all ability to communicate and interact with her surroundings. We applied trio whole exome sequencing to a young woman who experienced extreme developmental regression starting at 2.5 years of...
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