Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

• Автори: Laura Schultz-Rogers (Автор), Karthik Muthusamy (Автор), Filippo Pinto e Vairo (Автор), Eric W. Klee (Автор), Brendan Lanpher (Автор)
• Формат: Книга
• Опубліковано: BMC, 2020-11-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: Connect to this object online.

Abstract Background Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenotype, the clinical spectrum associated with loss-of-function variation...