Article

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

2019-01-01

Abstract excerpt

Most known genetic causes of severe childhood developmental disorders are rare, deleterious, protein-coding changes that cause Mendelian disorders. Children with these disorders typically show early-onset impairment in growth, learning and adaptive behaviours. Linkage and whole exome sequencing studies on these patients have previously focused on identifying diagnostic rare variants that are solely responsible for...

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Literature Corpus work: 92a40f40-bab7-5998-a0ac-bf802f612343
DOI: 10.17863/cam.37830

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