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Article
Open AccessFOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring
FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of m...
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Article
Open AccessPhelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring
Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of S...