Article
Importance of copy number variants in childhood apraxia of speech and other speech sound disorders.
Communications biology - 5 Oct 2024
Chan E Ricky, Benchek Penelope, Miller Gabrielle, Brustoski Kim, Schaffer Ashleigh, Truitt Barbara, Tag Jessica, Freebairn Lisa, Lewis Barbara A, Stein Catherine M, Iyengar Sudha K
Abstract excerpt
Childhood apraxia of speech (CAS) is a severe and rare form of speech sound disorder (SSD). CAS is typically sporadic, but may segregate in families with broader speech and language deficits. We hypothesize that genetic changes may be involved in the etiology of CAS. We conduct whole-genome sequencing in 27 families with CAS, 101 individuals in all. We identify 17 genomic regions including 19 unique copy number...
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